dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs1800562
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr6:26092913 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- G>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.053147 (15497/291590, ALFA)A=0.034807 (9213/264690, TOPMED)A=0.033212 (8344/251236, GnomAD_exome) (+ 25 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
-
HFE : Missense VariantHFE-AS1 : 2KB Upstream Variant
- Publications
- 165 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 308084 | G=0.947281 | A=0.052719 |
| European | Sub | 258780 | G=0.941201 | A=0.058799 |
| African | Sub | 14900 | G=0.98772 | A=0.01228 |
| African Others | Sub | 522 | G=1.000 | A=0.000 |
| African American | Sub | 14378 | G=0.98727 | A=0.01273 |
| Asian | Sub | 6532 | G=0.9997 | A=0.0003 |
| East Asian | Sub | 4636 | G=0.9996 | A=0.0004 |
| Other Asian | Sub | 1896 | G=1.0000 | A=0.0000 |
| Latin American 1 | Sub | 984 | G=0.980 | A=0.020 |
| Latin American 2 | Sub | 1818 | G=0.9846 | A=0.0154 |
| South Asian | Sub | 5166 | G=0.9992 | A=0.0008 |
| Other | Sub | 19904 | G=0.96036 | A=0.03964 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 291590 | G=0.946853 | A=0.053147 |
| Allele Frequency Aggregator | European | Sub | 248576 | G=0.941233 | A=0.058767 |
| Allele Frequency Aggregator | Other | Sub | 18452 | G=0.96114 | A=0.03886 |
| Allele Frequency Aggregator | African | Sub | 10062 | G=0.98827 | A=0.01173 |
| Allele Frequency Aggregator | Asian | Sub | 6532 | G=0.9997 | A=0.0003 |
| Allele Frequency Aggregator | South Asian | Sub | 5166 | G=0.9992 | A=0.0008 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 1818 | G=0.9846 | A=0.0154 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 984 | G=0.980 | A=0.020 |
| TopMed | Global | Study-wide | 264690 | G=0.965193 | A=0.034807 |
| gnomAD - Exomes | Global | Study-wide | 251236 | G=0.966788 | A=0.033212 |
| gnomAD - Exomes | European | Sub | 135170 | G=0.946194 | A=0.053806 |
| gnomAD - Exomes | Asian | Sub | 49010 | G=0.99857 | A=0.00143 |
| gnomAD - Exomes | American | Sub | 34588 | G=0.98644 | A=0.01356 |
| gnomAD - Exomes | African | Sub | 16256 | G=0.98930 | A=0.01070 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10076 | G=0.98829 | A=0.01171 |
| gnomAD - Exomes | Other | Sub | 6136 | G=0.9609 | A=0.0391 |
| gnomAD - Genomes | Global | Study-wide | 140216 | G=0.961203 | A=0.038797 |
| gnomAD - Genomes | European | Sub | 75934 | G=0.93943 | A=0.06057 |
| gnomAD - Genomes | African | Sub | 42026 | G=0.98867 | A=0.01133 |
| gnomAD - Genomes | American | Sub | 13650 | G=0.98110 | A=0.01890 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | G=0.9865 | A=0.0135 |
| gnomAD - Genomes | East Asian | Sub | 3132 | G=0.9994 | A=0.0006 |
| gnomAD - Genomes | Other | Sub | 2152 | G=0.9721 | A=0.0279 |
| ExAC | Global | Study-wide | 121394 | G=0.967568 | A=0.032432 |
| ExAC | Europe | Sub | 73342 | G=0.95037 | A=0.04963 |
| ExAC | Asian | Sub | 25166 | G=0.99845 | A=0.00155 |
| ExAC | American | Sub | 11572 | G=0.98851 | A=0.01149 |
| ExAC | African | Sub | 10406 | G=0.98991 | A=0.01009 |
| ExAC | Other | Sub | 908 | G=0.978 | A=0.022 |
| The PAGE Study | Global | Study-wide | 78702 | G=0.98611 | A=0.01389 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | G=0.98705 | A=0.01295 |
| The PAGE Study | Mexican | Sub | 10810 | G=0.98400 | A=0.01600 |
| The PAGE Study | Asian | Sub | 8318 | G=0.9999 | A=0.0001 |
| The PAGE Study | PuertoRican | Sub | 7918 | G=0.9856 | A=0.0144 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | G=0.9837 | A=0.0163 |
| The PAGE Study | Cuban | Sub | 4230 | G=0.9704 | A=0.0296 |
| The PAGE Study | Dominican | Sub | 3828 | G=0.9804 | A=0.0196 |
| The PAGE Study | CentralAmerican | Sub | 2450 | G=0.9845 | A=0.0155 |
| The PAGE Study | SouthAmerican | Sub | 1982 | G=0.9904 | A=0.0096 |
| The PAGE Study | NativeAmerican | Sub | 1260 | G=0.9595 | A=0.0405 |
| The PAGE Study | SouthAsian | Sub | 856 | G=0.998 | A=0.002 |
| 14KJPN | JAPANESE | Study-wide | 28258 | G=0.99993 | A=0.00007 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.9878 | A=0.0122 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.9978 | A=0.0022 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.9581 | A=0.0419 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.9975 | A=0.0025 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=1.0000 | A=0.0000 |
| 1000Genomes_30x | American | Sub | 980 | G=0.982 | A=0.018 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.9874 | A=0.0126 |
| 1000Genomes | African | Sub | 1322 | G=0.9977 | A=0.0023 |
| 1000Genomes | East Asian | Sub | 1008 | G=1.0000 | A=0.0000 |
| 1000Genomes | Europe | Sub | 1006 | G=0.9573 | A=0.0427 |
| 1000Genomes | South Asian | Sub | 978 | G=0.998 | A=0.002 |
| 1000Genomes | American | Sub | 694 | G=0.978 | A=0.022 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.9574 | A=0.0426 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.9206 | A=0.0794 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.9310 | A=0.0690 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | G=0.9928 | A=0.0072 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | G=0.998 | A=0.002 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | G=1.000 | A=0.000 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | G=1.000 | A=0.000 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | G=0.956 | A=0.044 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | G=1.000 | A=0.000 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | G=1.000 | A=0.000 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | G=1.00 | A=0.00 |
| HapMap | Global | Study-wide | 1214 | G=0.9811 | A=0.0189 |
| HapMap | American | Sub | 830 | G=0.978 | A=0.022 |
| HapMap | Europe | Sub | 176 | G=0.972 | A=0.028 |
| HapMap | African | Sub | 120 | G=1.000 | A=0.000 |
| HapMap | Asian | Sub | 88 | G=1.00 | A=0.00 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1094 | G=0.9799 | A=0.0201 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 626 | G=0.984 | A=0.016 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | G=1.000 | A=0.000 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 118 | G=1.000 | A=0.000 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | G=0.954 | A=0.046 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 62 | G=0.89 | A=0.11 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | G=1.00 | A=0.00 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.946 | A=0.054 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | G=0.999 | A=0.001 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | G=0.999 | A=0.001 |
| Chileans | Chilean | Study-wide | 626 | G=0.982 | A=0.018 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.925 | A=0.075 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.968 | A=0.032 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | G=0.967 | A=0.033 |
| Qatari | Global | Study-wide | 216 | G=0.995 | A=0.005 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 52 | G=1.00 | A=0.00 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.97 | A=0.03 |
| SGDP_PRJ | Global | Study-wide | 12 | G=0.50 | A=0.50 |
| Siberian | Global | Study-wide | 2 | G=0.5 | A=0.5 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 6 | NC_000006.12:g.26092913G>A |
| GRCh37.p13 chr 6 | NC_000006.11:g.26093141G>A |
| HFE RefSeqGene (LRG_748) | NG_008720.2:g.10633G>A |
Gene: HFE, homeostatic iron regulator
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| HFE transcript variant 11 | NM_139011.3:c.77-206G>A | N/A | Intron Variant |
| HFE transcript variant 4 | NM_139004.3:c.569G>A | C [TGC] > Y [TAC] | Coding Sequence Variant |
| hereditary hemochromatosis protein isoform 4 precursor | NP_620573.1:p.Cys190Tyr | C (Cys) > Y (Tyr) | Missense Variant |
| HFE transcript variant 10 | NM_139010.3:c.305G>A | C [TGC] > Y [TAC] | Coding Sequence Variant |
| hereditary hemochromatosis protein isoform 10 precursor | NP_620579.1:p.Cys102Tyr | C (Cys) > Y (Tyr) | Missense Variant |
| HFE transcript variant 3 | NM_139003.3:c.527G>A | C [TGC] > Y [TAC] | Coding Sequence Variant |
| hereditary hemochromatosis protein isoform 3 precursor | NP_620572.1:p.Cys176Tyr | C (Cys) > Y (Tyr) | Missense Variant |
| HFE transcript variant 8 | NM_139008.3:c.539G>A | C [TGC] > Y [TAC] | Coding Sequence Variant |
| hereditary hemochromatosis protein isoform 8 precursor | NP_620577.1:p.Cys180Tyr | C (Cys) > Y (Tyr) | Missense Variant |
| HFE transcript variant 12 | NM_001300749.2:c.845G>A | C [TGC] > Y [TAC] | Coding Sequence Variant |
| hereditary hemochromatosis protein isoform 12 precursor | NP_001287678.1:p.Cys282Tyr | C (Cys) > Y (Tyr) | Missense Variant |
| HFE transcript variant 6 | NM_139006.3:c.803G>A | C [TGC] > Y [TAC] | Coding Sequence Variant |
| hereditary hemochromatosis protein isoform 6 precursor | NP_620575.1:p.Cys268Tyr | C (Cys) > Y (Tyr) | Missense Variant |
| HFE transcript variant 9 | NM_139009.3:c.776G>A | C [TGC] > Y [TAC] | Coding Sequence Variant |
| hereditary hemochromatosis protein isoform 9 precursor | NP_620578.1:p.Cys259Tyr | C (Cys) > Y (Tyr) | Missense Variant |
| HFE transcript variant 7 | NM_139007.3:c.581G>A | C [TGC] > Y [TAC] | Coding Sequence Variant |
| hereditary hemochromatosis protein isoform 7 precursor | NP_620576.1:p.Cys194Tyr | C (Cys) > Y (Tyr) | Missense Variant |
| HFE transcript variant 13 | NM_001384164.1:c.845G>A | C [TGC] > Y [TAC] | Coding Sequence Variant |
| hereditary hemochromatosis protein isoform 13 precursor | NP_001371093.1:p.Cys282Tyr | C (Cys) > Y (Tyr) | Missense Variant |
| HFE transcript variant 1 | NM_000410.4:c.845G>A | C [TGC] > Y [TAC] | Coding Sequence Variant |
| hereditary hemochromatosis protein isoform 1 precursor | NP_000401.1:p.Cys282Tyr | C (Cys) > Y (Tyr) | Missense Variant |
| HFE transcript variant X1 | XR_241893.5:n.857G>A | N/A | Non Coding Transcript Variant |
Gene: HFE-AS1, HFE antisense RNA 1
(minus strand)
:
2KB Upstream Variant
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| HFE-AS1 transcript | NR_144383.1:n. | N/A | Upstream Transcript Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: A (allele ID:
15048
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000000019.33 | Hemochromatosis type 1 | Pathogenic |
| RCV000000020.8 | Porphyria cutanea tarda, susceptibility to | Risk-Factor |
| RCV000000021.8 | Porphyria variegata, susceptibility to | Risk-Factor |
| RCV000000022.8 | Hemochromatosis, juvenile, digenic | Pathogenic |
| RCV000000023.8 | Alzheimer disease, susceptibility to | Risk-Factor |
| RCV000000024.8 | Transferrin serum level quantitative trait locus 2 | Association |
| RCV000000025.8 | Microvascular complications of diabetes, susceptibility to, 7 | Risk-Factor |
| RCV000178096.26 | not provided | Pathogenic,Other |
| RCV000210820.2 | Hereditary cancer-predisposing syndrome | Pathogenic |
| RCV000308358.15 | Hereditary hemochromatosis | Pathogenic |
| RCV000414811.2 | Cutaneous photosensitivity,Porphyrinuria | Uncertain-Significance |
| RCV000844709.5 | Hemochromatosis type 2 | Risk-Factor |
| RCV001248830.3 | Bronze diabetes | Not-Provided |
| RCV001262214.2 | Alzheimer disease | Pathogenic |
| RCV001270034.2 | Abdominal pain,Abnormal peripheral nervous system morphology,Abnormality of the male genitalia,Abnormality of the nervous system,Behavioral abnormality,Pain,Peripheral neuropathy | Pathogenic |
| RCV001731264.3 | Cardiomyopathy | Pathogenic |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | G= | A |
|---|---|---|
| GRCh38.p14 chr 6 | NC_000006.12:g.26092913= | NC_000006.12:g.26092913G>A |
| GRCh37.p13 chr 6 | NC_000006.11:g.26093141= | NC_000006.11:g.26093141G>A |
| HFE RefSeqGene (LRG_748) | NG_008720.2:g.10633= | NG_008720.2:g.10633G>A |
| HFE transcript variant 1 | NM_000410.4:c.845= | NM_000410.4:c.845G>A |
| HFE transcript variant 1 | NM_000410.3:c.845= | NM_000410.3:c.845G>A |
| HFE transcript variant 6 | NM_139006.3:c.803= | NM_139006.3:c.803G>A |
| HFE transcript variant 6 | NM_139006.2:c.803= | NM_139006.2:c.803G>A |
| HFE transcript variant 9 | NM_139009.3:c.776= | NM_139009.3:c.776G>A |
| HFE transcript variant 9 | NM_139009.2:c.776= | NM_139009.2:c.776G>A |
| HFE transcript variant 12 | NM_001300749.3:c.845= | NM_001300749.3:c.845G>A |
| HFE transcript variant 12 | NM_001300749.2:c.845= | NM_001300749.2:c.845G>A |
| HFE transcript variant 12 | NM_001300749.1:c.845= | NM_001300749.1:c.845G>A |
| HFE transcript variant 7 | NM_139007.3:c.581= | NM_139007.3:c.581G>A |
| HFE transcript variant 7 | NM_139007.2:c.581= | NM_139007.2:c.581G>A |
| HFE transcript variant 4 | NM_139004.3:c.569= | NM_139004.3:c.569G>A |
| HFE transcript variant 4 | NM_139004.2:c.569= | NM_139004.2:c.569G>A |
| HFE transcript variant 8 | NM_139008.3:c.539= | NM_139008.3:c.539G>A |
| HFE transcript variant 8 | NM_139008.2:c.539= | NM_139008.2:c.539G>A |
| HFE transcript variant 3 | NM_139003.3:c.527= | NM_139003.3:c.527G>A |
| HFE transcript variant 3 | NM_139003.2:c.527= | NM_139003.2:c.527G>A |
| HFE transcript variant 10 | NM_139010.3:c.305= | NM_139010.3:c.305G>A |
| HFE transcript variant 10 | NM_139010.2:c.305= | NM_139010.2:c.305G>A |
| HFE transcript variant 14 | NM_001406751.1:c.836= | NM_001406751.1:c.836G>A |
| HFE transcript variant 13 | NM_001384164.1:c.845= | NM_001384164.1:c.845G>A |
| HFE transcript variant 15 | NM_001406752.1:c.581= | NM_001406752.1:c.581G>A |
| HFE transcript variant X1 | XR_241893.5:n.857= | XR_241893.5:n.857G>A |
| HFE transcript variant X2 | XR_241893.4:n.939= | XR_241893.4:n.939G>A |
| HFE transcript variant X2 | XR_241893.3:n.967= | XR_241893.3:n.967G>A |
| HFE transcript variant X2 | XR_241893.2:n.967= | XR_241893.2:n.967G>A |
| HFE transcript variant X2 | XR_241893.1:n.967= | XR_241893.1:n.967G>A |
| hereditary hemochromatosis protein isoform 1 precursor | NP_000401.1:p.Cys282= | NP_000401.1:p.Cys282Tyr |
| hereditary hemochromatosis protein isoform 6 precursor | NP_620575.1:p.Cys268= | NP_620575.1:p.Cys268Tyr |
| hereditary hemochromatosis protein isoform 9 precursor | NP_620578.1:p.Cys259= | NP_620578.1:p.Cys259Tyr |
| hereditary hemochromatosis protein isoform 12 precursor | NP_001287678.1:p.Cys282= | NP_001287678.1:p.Cys282Tyr |
| hereditary hemochromatosis protein isoform 7 precursor | NP_620576.1:p.Cys194= | NP_620576.1:p.Cys194Tyr |
| hereditary hemochromatosis protein isoform 4 precursor | NP_620573.1:p.Cys190= | NP_620573.1:p.Cys190Tyr |
| hereditary hemochromatosis protein isoform 8 precursor | NP_620577.1:p.Cys180= | NP_620577.1:p.Cys180Tyr |
| hereditary hemochromatosis protein isoform 3 precursor | NP_620572.1:p.Cys176= | NP_620572.1:p.Cys176Tyr |
| hereditary hemochromatosis protein isoform 10 precursor | NP_620579.1:p.Cys102= | NP_620579.1:p.Cys102Tyr |
| hereditary hemochromatosis protein isoform 13 precursor | NP_001371093.1:p.Cys282= | NP_001371093.1:p.Cys282Tyr |
| HFE transcript variant 11 | NM_139011.2:c.77-206= | NM_139011.2:c.77-206G>A |
| HFE transcript variant 11 | NM_139011.3:c.77-206= | NM_139011.3:c.77-206G>A |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
127 SubSNP,
26 Frequency,
16 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | HGBASE | ss2420669 | Nov 14, 2000 (89) |
| 2 | SNP500CANCER | ss5586582 | Mar 31, 2003 (113) |
| 3 | PERLEGEN | ss24365242 | Sep 20, 2004 (123) |
| 4 | KRIBB_YJKIM | ss65843448 | Dec 01, 2006 (127) |
| 5 | AFFY | ss66077890 | Dec 01, 2006 (127) |
| 6 | ILLUMINA | ss66577872 | Dec 01, 2006 (127) |
| 7 | ILLUMINA | ss67197007 | Dec 01, 2006 (127) |
| 8 | ILLUMINA | ss67585966 | Dec 01, 2006 (127) |
| 9 | PERLEGEN | ss68969475 | May 17, 2007 (127) |
| 10 | ILLUMINA | ss70675219 | May 24, 2008 (130) |
| 11 | ILLUMINA | ss71238231 | May 17, 2007 (127) |
| 12 | ILLUMINA | ss74935970 | Dec 06, 2007 (129) |
| 13 | AFFY | ss76015380 | Dec 06, 2007 (129) |
| 14 | ILLUMINA | ss79094227 | Dec 14, 2007 (130) |
| 15 | KRIBB_YJKIM | ss83877451 | Dec 14, 2007 (130) |
| 16 | EGP_SNPS | ss95209990 | Mar 25, 2008 (129) |
| 17 | ILLUMINA | ss121814162 | Dec 01, 2009 (131) |
| 18 | ILLUMINA | ss153736398 | Dec 01, 2009 (131) |
| 19 | ILLUMINA | ss159329747 | Dec 01, 2009 (131) |
| 20 | SEATTLESEQ | ss159711412 | Dec 01, 2009 (131) |
| 21 | AFFY | ss170436801 | Jul 04, 2010 (132) |
| 22 | ILLUMINA | ss170815449 | Jul 04, 2010 (132) |
| 23 | ILLUMINA | ss172924829 | Jul 04, 2010 (132) |
| 24 | ILLUMINA | ss209087069 | Jul 04, 2010 (132) |
| 25 | 1000GENOMES | ss233370759 | Jul 14, 2010 (132) |
| 26 | ILLUMINA | ss244285028 | Jul 04, 2010 (132) |
| 27 | OMICIA | ss244317425 | Jun 16, 2010 (132) |
| 28 | OMIM-CURATED-RECORDS | ss288288919 | Dec 21, 2010 (133) |
| 29 | NHLBI-ESP | ss342203133 | May 09, 2011 (134) |
| 30 | ILLUMINA | ss410868036 | Sep 17, 2011 (135) |
| 31 | ILLUMINA | ss410916049 | Sep 17, 2011 (135) |
| 32 | PAGE_STUDY | ss469996319 | May 04, 2012 (137) |
| 33 | ILLUMINA | ss483420740 | May 04, 2012 (137) |
| 34 | ILLUMINA | ss485221593 | May 04, 2012 (137) |
| 35 | 1000GENOMES | ss490921029 | May 04, 2012 (137) |
| 36 | EXOME_CHIP | ss491378673 | May 04, 2012 (137) |
| 37 | CLINSEQ_SNP | ss491881988 | May 04, 2012 (137) |
| 38 | ILLUMINA | ss535631718 | Sep 08, 2015 (146) |
| 39 | ILLUMINA | ss778678728 | Sep 08, 2015 (146) |
| 40 | ILLUMINA | ss780846250 | Sep 08, 2015 (146) |
| 41 | ILLUMINA | ss782153615 | Sep 08, 2015 (146) |
| 42 | ILLUMINA | ss783529810 | Sep 08, 2015 (146) |
| 43 | ILLUMINA | ss825424745 | Apr 01, 2015 (144) |
| 44 | ILLUMINA | ss832841756 | Jul 13, 2019 (153) |
| 45 | ILLUMINA | ss834137257 | Sep 08, 2015 (146) |
| 46 | JMKIDD_LAB | ss974459122 | Aug 21, 2014 (142) |
| 47 | EVA-GONL | ss982706046 | Aug 21, 2014 (142) |
| 48 | 1000GENOMES | ss1319404538 | Aug 21, 2014 (142) |
| 49 | HAMMER_LAB | ss1397445372 | Sep 08, 2015 (146) |
| 50 | EVA_GENOME_DK | ss1581580354 | Apr 01, 2015 (144) |
| 51 | EVA_FINRISK | ss1584044193 | Apr 01, 2015 (144) |
| 52 | EVA_DECODE | ss1592256986 | Apr 01, 2015 (144) |
| 53 | EVA_UK10K_ALSPAC | ss1615189586 | Apr 01, 2015 (144) |
| 54 | EVA_UK10K_TWINSUK | ss1658183619 | Apr 01, 2015 (144) |
| 55 | EVA_EXAC | ss1688187541 | Apr 01, 2015 (144) |
| 56 | EVA_MGP | ss1711114875 | Apr 01, 2015 (144) |
| 57 | ILLUMINA | ss1752621306 | Sep 08, 2015 (146) |
| 58 | ILLUMINA | ss1917800125 | Feb 12, 2016 (147) |
| 59 | WEILL_CORNELL_DGM | ss1925958677 | Feb 12, 2016 (147) |
| 60 | ILLUMINA | ss1946170221 | Feb 12, 2016 (147) |
| 61 | ILLUMINA | ss1958872924 | Feb 12, 2016 (147) |
| 62 | JJLAB | ss2023602122 | Sep 14, 2016 (149) |
| 63 | ILLUMINA | ss2094820676 | Dec 20, 2016 (150) |
| 64 | ILLUMINA | ss2095171903 | Dec 20, 2016 (150) |
| 65 | USC_VALOUEV | ss2151766876 | Nov 08, 2017 (151) |
| 66 | HUMAN_LONGEVITY | ss2282674333 | Dec 20, 2016 (150) |
| 67 | ILLUMINA | ss2634415950 | Nov 08, 2017 (151) |
| 68 | ILLUMINA | ss2634415951 | Nov 08, 2017 (151) |
| 69 | ILLUMINA | ss2711064798 | Nov 08, 2017 (151) |
| 70 | GNOMAD | ss2735584385 | Nov 08, 2017 (151) |
| 71 | GNOMAD | ss2747561226 | Nov 08, 2017 (151) |
| 72 | GNOMAD | ss2836999998 | Nov 08, 2017 (151) |
| 73 | AFFY | ss2985356725 | Nov 08, 2017 (151) |
| 74 | AFFY | ss2985987232 | Nov 08, 2017 (151) |
| 75 | SWEGEN | ss2998700895 | Nov 08, 2017 (151) |
| 76 | ILLUMINA | ss3022585403 | Nov 08, 2017 (151) |
| 77 | CSHL | ss3346892233 | Nov 08, 2017 (151) |
| 78 | ILLUMINA | ss3625896683 | Oct 12, 2018 (152) |
| 79 | ILLUMINA | ss3629471258 | Oct 12, 2018 (152) |
| 80 | ILLUMINA | ss3629471259 | Oct 12, 2018 (152) |
| 81 | ILLUMINA | ss3632335427 | Oct 12, 2018 (152) |
| 82 | ILLUMINA | ss3635049917 | Oct 12, 2018 (152) |
| 83 | ILLUMINA | ss3638613829 | Oct 12, 2018 (152) |
| 84 | ILLUMINA | ss3639310128 | Oct 12, 2018 (152) |
| 85 | ILLUMINA | ss3639680266 | Oct 12, 2018 (152) |
| 86 | ILLUMINA | ss3640757213 | Oct 12, 2018 (152) |
| 87 | ILLUMINA | ss3643555046 | Oct 12, 2018 (152) |
| 88 | ILLUMINA | ss3644903292 | Oct 12, 2018 (152) |
| 89 | BIOINF_KMB_FNS_UNIBA | ss3645939901 | Oct 12, 2018 (152) |
| 90 | ILLUMINA | ss3653095259 | Oct 12, 2018 (152) |
| 91 | ILLUMINA | ss3653095260 | Oct 12, 2018 (152) |
| 92 | ILLUMINA | ss3654124828 | Oct 12, 2018 (152) |
| 93 | EGCUT_WGS | ss3666633457 | Jul 13, 2019 (153) |
| 94 | EVA_DECODE | ss3716810635 | Jul 13, 2019 (153) |
| 95 | ILLUMINA | ss3726320091 | Jul 13, 2019 (153) |
| 96 | ACPOP | ss3733306380 | Jul 13, 2019 (153) |
| 97 | ILLUMINA | ss3744546974 | Jul 13, 2019 (153) |
| 98 | ILLUMINA | ss3745350002 | Jul 13, 2019 (153) |
| 99 | EVA | ss3764754594 | Jul 13, 2019 (153) |
| 100 | PAGE_CC | ss3771270382 | Jul 13, 2019 (153) |
| 101 | ILLUMINA | ss3772843762 | Jul 13, 2019 (153) |
| 102 | EVA | ss3824161861 | Apr 26, 2020 (154) |
| 103 | EVA | ss3825691543 | Apr 26, 2020 (154) |
| 104 | EVA | ss3829795411 | Apr 26, 2020 (154) |
| 105 | HGDP | ss3847827651 | Apr 26, 2020 (154) |
| 106 | SGDP_PRJ | ss3864147660 | Apr 26, 2020 (154) |
| 107 | EVA | ss3984563529 | Apr 26, 2021 (155) |
| 108 | EVA | ss3985207666 | Apr 26, 2021 (155) |
| 109 | EVA | ss3986338784 | Apr 26, 2021 (155) |
| 110 | EVA | ss4017261486 | Apr 26, 2021 (155) |
| 111 | TOPMED | ss4697235969 | Apr 26, 2021 (155) |
| 112 | EVA | ss5237645319 | Oct 13, 2022 (156) |
| 113 | 1000G_HIGH_COVERAGE | ss5267790547 | Oct 13, 2022 (156) |
| 114 | TRAN_CS_UWATERLOO | ss5314415241 | Oct 13, 2022 (156) |
| 115 | EVA | ss5364498414 | Oct 13, 2022 (156) |
| 116 | HUGCELL_USP | ss5465549093 | Oct 13, 2022 (156) |
| 117 | EVA | ss5508390279 | Oct 13, 2022 (156) |
| 118 | 1000G_HIGH_COVERAGE | ss5553392446 | Oct 13, 2022 (156) |
| 119 | SANFORD_IMAGENETICS | ss5624618427 | Oct 13, 2022 (156) |
| 120 | SANFORD_IMAGENETICS | ss5639992286 | Oct 13, 2022 (156) |
| 121 | TOMMO_GENOMICS | ss5714450991 | Oct 13, 2022 (156) |
| 122 | EVA | ss5841950580 | Oct 13, 2022 (156) |
| 123 | EVA | ss5848084898 | Oct 13, 2022 (156) |
| 124 | EVA | ss5848647448 | Oct 13, 2022 (156) |
| 125 | EVA | ss5883096444 | Oct 13, 2022 (156) |
| 126 | EVA | ss5968499353 | Oct 13, 2022 (156) |
| 127 | EVA | ss5979774217 | Oct 13, 2022 (156) |
| 128 | 1000Genomes | NC_000006.11 - 26093141 | Oct 12, 2018 (152) |
| 129 | 1000Genomes_30x | NC_000006.12 - 26092913 | Oct 13, 2022 (156) |
| 130 | The Avon Longitudinal Study of Parents and Children | NC_000006.11 - 26093141 | Oct 12, 2018 (152) |
| 131 | Chileans | NC_000006.11 - 26093141 | Apr 26, 2020 (154) |
| 132 | Genome-wide autozygosity in Daghestan | NC_000006.10 - 26201120 | Apr 26, 2020 (154) |
| 133 | Genetic variation in the Estonian population | NC_000006.11 - 26093141 | Oct 12, 2018 (152) |
| 134 | ExAC | NC_000006.11 - 26093141 | Oct 12, 2018 (152) |
| 135 | FINRISK | NC_000006.11 - 26093141 | Apr 26, 2020 (154) |
| 136 | The Danish reference pan genome | NC_000006.11 - 26093141 | Apr 26, 2020 (154) |
| 137 | gnomAD - Genomes | NC_000006.12 - 26092913 | Apr 26, 2021 (155) |
| 138 | gnomAD - Exomes | NC_000006.11 - 26093141 | Jul 13, 2019 (153) |
| 139 | Genome of the Netherlands Release 5 | NC_000006.11 - 26093141 | Apr 26, 2020 (154) |
| 140 | HGDP-CEPH-db Supplement 1 | NC_000006.10 - 26201120 | Apr 26, 2020 (154) |
| 141 | HapMap | NC_000006.12 - 26092913 | Apr 26, 2020 (154) |
| 142 | Medical Genome Project healthy controls from Spanish population | NC_000006.11 - 26093141 | Apr 26, 2020 (154) |
| 143 | Northern Sweden | NC_000006.11 - 26093141 | Jul 13, 2019 (153) |
| 144 | The PAGE Study | NC_000006.12 - 26092913 | Jul 13, 2019 (153) |
| 145 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000006.11 - 26093141 | Apr 26, 2021 (155) |
| 146 | CNV burdens in cranial meningiomas | NC_000006.11 - 26093141 | Apr 26, 2021 (155) |
| 147 | Qatari | NC_000006.11 - 26093141 | Apr 26, 2020 (154) |
| 148 | SGDP_PRJ | NC_000006.11 - 26093141 | Apr 26, 2020 (154) |
| 149 | Siberian | NC_000006.11 - 26093141 | Apr 26, 2020 (154) |
| 150 | 14KJPN | NC_000006.12 - 26092913 | Oct 13, 2022 (156) |
| 151 | TopMed | NC_000006.12 - 26092913 | Apr 26, 2021 (155) |
| 152 | UK 10K study - Twins | NC_000006.11 - 26093141 | Oct 12, 2018 (152) |
| 153 | ALFA | NC_000006.12 - 26092913 | Apr 26, 2021 (155) |
| 154 | ClinVar | RCV000000019.33 | Oct 13, 2022 (156) |
| 155 | ClinVar | RCV000000020.8 | Oct 13, 2022 (156) |
| 156 | ClinVar | RCV000000021.8 | Oct 13, 2022 (156) |
| 157 | ClinVar | RCV000000022.8 | Oct 13, 2022 (156) |
| 158 | ClinVar | RCV000000023.8 | Oct 13, 2022 (156) |
| 159 | ClinVar | RCV000000024.8 | Oct 13, 2022 (156) |
| 160 | ClinVar | RCV000000025.8 | Oct 13, 2022 (156) |
| 161 | ClinVar | RCV000178096.26 | Oct 13, 2022 (156) |
| 162 | ClinVar | RCV000210820.2 | Oct 13, 2022 (156) |
| 163 | ClinVar | RCV000308358.15 | Oct 13, 2022 (156) |
| 164 | ClinVar | RCV000414811.2 | Oct 13, 2022 (156) |
| 165 | ClinVar | RCV000844709.5 | Oct 13, 2022 (156) |
| 166 | ClinVar | RCV001248830.3 | Oct 13, 2022 (156) |
| 167 | ClinVar | RCV001262214.2 | Oct 13, 2022 (156) |
| 168 | ClinVar | RCV001270034.2 | Oct 13, 2022 (156) |
| 169 | ClinVar | RCV001731264.3 | Oct 13, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs4134660 | Nov 14, 2002 (109) |
| rs17530654 | Oct 08, 2004 (123) |
| rs58044250 | May 24, 2008 (130) |
| rs111535158 | Oct 26, 2010 (133) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss3639310128, ss3639680266 | NC_000006.9:26201119:G:A | NC_000006.12:26092912:G:A | (self) |
| 420029, 505543, ss485221593, ss491881988, ss825424745, ss1397445372, ss1592256986, ss3643555046, ss3847827651 | NC_000006.10:26201119:G:A | NC_000006.12:26092912:G:A | (self) |
| 31165489, 17368924, 374624, 12371705, 8209007, 40654, 7745293, 4723467, 7707912, 230635, 6591245, 433593, 112907, 8000607, 16164640, 4283230, 17368924, ss233370759, ss342203133, ss483420740, ss490921029, ss491378673, ss535631718, ss778678728, ss780846250, ss782153615, ss783529810, ss832841756, ss834137257, ss974459122, ss982706046, ss1319404538, ss1581580354, ss1584044193, ss1615189586, ss1658183619, ss1688187541, ss1711114875, ss1752621306, ss1917800125, ss1925958677, ss1946170221, ss1958872924, ss2023602122, ss2094820676, ss2095171903, ss2151766876, ss2634415950, ss2634415951, ss2711064798, ss2735584385, ss2747561226, ss2836999998, ss2985356725, ss2985987232, ss2998700895, ss3022585403, ss3346892233, ss3625896683, ss3629471258, ss3629471259, ss3632335427, ss3635049917, ss3638613829, ss3640757213, ss3644903292, ss3653095259, ss3653095260, ss3654124828, ss3666633457, ss3733306380, ss3744546974, ss3745350002, ss3764754594, ss3772843762, ss3824161861, ss3825691543, ss3829795411, ss3864147660, ss3984563529, ss3985207666, ss3986338784, ss4017261486, ss5364498414, ss5508390279, ss5624618427, ss5639992286, ss5841950580, ss5848084898, ss5848647448, ss5968499353, ss5979774217 | NC_000006.11:26093140:G:A | NC_000006.12:26092912:G:A | (self) |
| RCV000000019.33, RCV000000020.8, RCV000000021.8, RCV000000022.8, RCV000000023.8, RCV000000024.8, RCV000000025.8, RCV000178096.26, RCV000210820.2, RCV000308358.15, RCV000414811.2, RCV000844709.5, RCV001248830.3, RCV001262214.2, RCV001270034.2, RCV001731264.3, 40918381, 220179953, 3087742, 491851, 48288095, 534613527, 5420787992, ss244317425, ss288288919, ss2282674333, ss3645939901, ss3716810635, ss3726320091, ss3771270382, ss4697235969, ss5237645319, ss5267790547, ss5314415241, ss5465549093, ss5553392446, ss5714450991, ss5883096444 | NC_000006.12:26092912:G:A | NC_000006.12:26092912:G:A | (self) |
| ss2420669, ss5586582, ss24365242, ss65843448, ss66077890, ss66577872, ss67197007, ss67585966, ss68969475, ss70675219, ss71238231, ss74935970, ss76015380, ss79094227, ss83877451, ss95209990, ss121814162, ss153736398, ss159329747, ss159711412, ss170436801, ss170815449, ss172924829, ss209087069, ss244285028, ss410868036, ss410916049, ss469996319 | NT_007592.15:26033140:G:A | NC_000006.12:26092912:G:A | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
165
citations for rs1800562
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 678784 | Proliferative retinopathy in a patient with diabetes mellitus and idiopathic haemochromatosis. | Walsh CH et al. | 1978 | British medical journal |
| 8696333 | A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. | Feder JN et al. | 1996 | Nature genetics |
| 8896549 | Haemochromatosis and HLA-H. | Jazwinska EC et al. | 1996 | Nature genetics |
| 8896550 | Haemochromatosis and HLA-H. | Jouanolle AM et al. | 1996 | Nature genetics |
| 8931958 | Mutation analysis in hereditary hemochromatosis. | Beutler E et al. | 1996 | Blood cells, molecules & diseases |
| 8943161 | Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. | Bulaj ZJ et al. | 1996 | The New England journal of medicine |
| 9024376 | Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. | Roberts AG et al. | 1997 | Lancet (London, England) |
| 9138148 | Global prevalence of putative haemochromatosis mutations. | Merryweather-Clarke AT et al. | 1997 | Journal of medical genetics |
| 9162021 | The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. | Feder JN et al. | 1997 | The Journal of biological chemistry |
| 9211748 | Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal. | Roth M et al. | 1997 | Immunogenetics |
| 9321765 | Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. | Rhodes DA et al. | 1997 | Journal of medical genetics |
| 9341868 | A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations. | Jouanolle AM et al. | 1997 | Human genetics |
| 9356458 | Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. | Waheed A et al. | 1997 | Proceedings of the National Academy of Sciences of the United States of America |
| 9439654 | Phenotype-genotype correlation in haemochromatosis subjects. | Mura C et al. | 1997 | Human genetics |
| 9462220 | A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium. | The U et al. | 1997 | Gut |
| 9585606 | The hemochromatosis 845 G-->A and 187 C-->G mutations: prevalence in non-Caucasian populations. | Cullen LM et al. | 1998 | American journal of human genetics |
| 9851896 | Hemochromatosis in Ireland and HFE. | Ryan E et al. | 1998 | Blood cells, molecules & diseases |
| 9851897 | Celtic origin of the C282Y mutation of hemochromatosis. | Lucotte G et al. | 1998 | Blood cells, molecules & diseases |
| 10381492 | The C282Y mutation causing hereditary hemochromatosis does not produce a null allele. | Levy JE et al. | 1999 | Blood |
| 10401000 | Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. | de Villiers JN et al. | 1999 | Human molecular genetics |
| 10431233 | Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. | Jeffrey GP et al. | 1999 | Nature genetics |
| 10673304 | Incidence of liver disease in people with HFE mutations. | Willis G et al. | 2000 | Gut |
| 11040194 | Differential HFE allele expression in hemochromatosis heterozygotes. | Rosmorduc O et al. | 2000 | Gastroenterology |
| 11812557 | Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. | Beutler E et al. | 2002 | Lancet (London, England) |
| 12241803 | Clinical haemochromatosis in HFE mutation carriers. | Poullis A et al. | 2002 | Lancet (London, England) |
| 12429850 | The hemochromatosis protein HFE inhibits iron export from macrophages. | Drakesmith H et al. | 2002 | Proceedings of the National Academy of Sciences of the United States of America |
| 12436244 | Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload. | McCune CA et al. | 2002 | Human genetics |
| 12915468 | Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. | Merryweather-Clarke AT et al. | 2003 | Human molecular genetics |
| 14618419 | A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes. | Peterlin B et al. | 2003 | Journal of human genetics |
| 14729817 | The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading. | Livesey KJ et al. | 2004 | Journal of medical genetics |
| 15060098 | Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease. | Robson KJ et al. | 2004 | Journal of medical genetics |
| 15070663 | Hemochromatosis mutations in the general population: iron overload progression rate. | Andersen RV et al. | 2004 | Blood |
| 15280838 | Association of porphyria cutanea tarda with hereditary hemochromatosis. | Mehrany K et al. | 2004 | Journal of the American Academy of Dermatology |
| 15347835 | The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2. | Oliva R et al. | 2004 | Endocrine |
| 15858186 | Hemochromatosis and iron-overload screening in a racially diverse population. | Adams PC et al. | 2005 | The New England journal of medicine |
| 16879202 | Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro. | Sarić M et al. | 2006 | Clinical genetics |
| 18199861 | Iron-overload-related disease in HFE hereditary hemochromatosis. | Allen KJ et al. | 2008 | The New England journal of medicine |
| 18414213 | ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. | Richards CS et al. | 2008 | Genetics in medicine |
| 18499578 | Iron-overload-related disease in HFE hereditary hemochromatosis. | Waalen J et al. | 2008 | The New England journal of medicine |
| 18504828 | Iron-overload-related disease in HFE hereditary hemochromatosis. | Rienhoff HY Jr et al. | 2008 | The New England journal of medicine |
| 18566337 | Prevalence, characteristics, and prognostic significance of HFE gene mutations in type 2 diabetes: the Fremantle Diabetes Study. | Davis TM et al. | 2008 | Diabetes care |
| 18603647 | Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response. | Simoni M et al. | 2008 | Human reproduction update |
| 18795173 | Variants in iron metabolism genes predict higher blood lead levels in young children. | Hopkins MR et al. | 2008 | Environmental health perspectives |
| 19084217 | Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. | Benyamin B et al. | 2009 | American journal of human genetics |
| 19159930 | Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants. | Pedersen P et al. | 2009 | Annals of hematology |
| 19165391 | Iron metabolism genes, low-level lead exposure, and QT interval. | Park SK et al. | 2009 | Environmental health perspectives |
| 19401444 | Body iron stores and glucose intolerance in premenopausal women: role of hyperandrogenism, insulin resistance, and genomic variants related to inflammation, oxidative stress, and iron metabolism. | Martínez-García MA et al. | 2009 | Diabetes care |
| 19444013 | HFE-associated hereditary hemochromatosis. | Alexander J et al. | 2009 | Genetics in medicine |
| 19474294 | Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. | Hindorff LA et al. | 2009 | Proceedings of the National Academy of Sciences of the United States of America |
| 19554541 | HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity. | Gurrin LC et al. | 2009 | Hepatology (Baltimore, Md.) |
| 19673882 | A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis. | Constantine CC et al. | 2009 | British journal of haematology |
| 19820697 | A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. | Soranzo N et al. | 2009 | Nature genetics |
| 19820698 | Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. | Chambers JC et al. | 2009 | Nature genetics |
| 19820699 | Common variants in TMPRSS6 are associated with iron status and erythrocyte volume. | Benyamin B et al. | 2009 | Nature genetics |
| 19862010 | Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. | Ganesh SK et al. | 2009 | Nature genetics |
| 19879291 | Environmental manganese exposure in residents living near a ferromanganese refinery in Southeast Ohio: a pilot study. | Haynes EN et al. | 2010 | Neurotoxicology |
| 19880490 | A genome-wide association analysis of serum iron concentrations. | Tanaka T et al. | 2010 | Blood |
| 19884647 | Air pollution, obesity, genes and cellular adhesion molecules. | Madrigano J et al. | 2010 | Occupational and environmental medicine |
| 20029940 | Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease. | Kauwe JS et al. | 2010 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 20110814 | Air pollution and homocysteine: more evidence that oxidative stress-related genes modify effects of particulate air pollution. | Ren C et al. | 2010 | Epidemiology (Cambridge, Mass.) |
| 20301613 | HFE-Related Hemochromatosis. | Barton JC et al. | 1993 | GeneReviews(®) |
| 20556870 | CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies. | Johnson AD et al. | 2010 | Genetics in medicine |
| 20659343 | HFE gene variants modify the association between maternal lead burden and infant birthweight: a prospective birth cohort study in Mexico City, Mexico. | Cantonwine D et al. | 2010 | Environmental health |
| 20846924 | Altered cardiac repolarization in association with air pollution and air temperature among myocardial infarction survivors. | Hampel R et al. | 2010 | Environmental health perspectives |
| 20858683 | Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. | Soranzo N et al. | 2010 | Diabetes |
| 20876667 | Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review. | Panagiotou OA et al. | 2010 | American journal of epidemiology |
| 20927387 | A genome-wide association study of red blood cell traits using the electronic medical record. | Kullo IJ et al. | 2010 | PloS one |
| 21067572 | Association analysis of nine candidate gene polymorphisms in Indian patients with type 2 diabetic retinopathy. | Balasubbu S et al. | 2010 | BMC medical genetics |
| 21138591 | Effect modification of air pollution on Urinary 8-Hydroxy-2'-Deoxyguanosine by genotypes: an application of the multiple testing procedure to identify significant SNP interactions. | Ren C et al. | 2010 | Environmental health |
| 21149283 | Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. | Oexle K et al. | 2011 | Human molecular genetics |
| 21153663 | Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans. | Lo KS et al. | 2011 | Human genetics |
| 21208937 | Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. | Pichler I et al. | 2011 | Human molecular genetics |
| 21240526 | Evaluation of the association studies of single nucleotide polymorphisms and hepatocellular carcinoma: a systematic review. | Jin F et al. | 2011 | Journal of cancer research and clinical oncology |
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| 21452290 | Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. | Bacon BR et al. | 2011 | Hepatology (Baltimore, Md.) |
| 21483845 | Genome-wide association study identifies genetic loci associated with iron deficiency. | McLaren CE et al. | 2011 | PloS one |
| 21665994 | Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. | Kutalik Z et al. | 2011 | Human molecular genetics |
| 21679129 | Genotyping of the hemochromatosis HFE p.H63D and p.C282Y mutations by high-resolution melting with the Rotor-Gene 6000® instrument. | Santos PC et al. | 2011 | Clinical chemistry and laboratory medicine |
| 21785125 | Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. | Traglia M et al. | 2011 | Journal of medical genetics |
| 21860704 | Implications of discoveries from genome-wide association studies in current cardiovascular practice. | Jeemon P et al. | 2011 | World journal of cardiology |
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| 22408404 | Molecular diagnostic and pathogenesis of hereditary hemochromatosis. | Santos PCJL et al. | 2012 | International journal of molecular sciences |
| 22540250 | Race-ethnic differences in the association of genetic loci with HbA1c levels and mortality in U.S. adults: the third National Health and Nutrition Examination Survey (NHANES III). | Grimsby JL et al. | 2012 | BMC medical genetics |
| 22611049 | Lower serum hepcidin and greater parenchymal iron in nonalcoholic fatty liver disease patients with C282Y HFE mutations. | Nelson JE et al. | 2012 | Hepatology (Baltimore, Md.) |
| 22735619 | Sample-to-SNP kit: a reliable, easy and fast tool for the detection of HFE p.H63D and p.C282Y variations associated to hereditary hemochromatosis. | Nielsen PB et al. | 2012 | Gene |
| 22815867 | Genetic determinants for body iron store and type 2 diabetes risk in US men and women. | He M et al. | 2012 | PloS one |
| 23386860 | Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes. | Pasquale LR et al. | 2013 | Frontiers in genetics |
| 23389292 | Hemochromatosis (HFE) gene mutations and risk of gastric cancer in the European Prospective Investigation into Cancer and Nutrition (EPIC) study. | Agudo A et al. | 2013 | Carcinogenesis |
| 23446634 | Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. | Chen Z et al. | 2013 | Human molecular genetics |
| 23468552 | Genetic variants influencing biomarkers of nutrition are not associated with cognitive capability in middle-aged and older adults. | Alfred T et al. | 2013 | The Journal of nutrition |
| 23792061 | Meta-analyses of HFE variants in coronary heart disease. | Lian J et al. | 2013 | Gene |
| 23794717 | Associations of common variants in HFE and TMPRSS6 with iron parameters are independent of serum hepcidin in a general population: a replication study. | Galesloot TE et al. | 2013 | Journal of medical genetics |
| 23820649 | Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. | Cooper DN et al. | 2013 | Human genetics |
| 23935582 | Effects of hemochromatosis and transferrin gene mutations on peripheral iron dyshomeostasis in mild cognitive impairment and Alzheimer's and Parkinson's diseases. | Mariani S et al. | 2013 | Frontiers in aging neuroscience |
| 23996192 | Toenail iron, genetic determinants of iron status, and the risk of glioma. | Anic GM et al. | 2013 | Cancer causes & control |
| 24033266 | A systematic approach to assessing the clinical significance of genetic variants. | Duzkale H et al. | 2013 | Clinical genetics |
| 24121126 | Pooled analysis of iron-related genes in Parkinson's disease: association with transferrin. | Rhodes SL et al. | 2014 | Neurobiology of disease |
| 24270849 | Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. | Denny JC et al. | 2013 | Nature biotechnology |
| 24398642 | Maternal iron levels early in pregnancy are not associated with offspring IQ score at age 8, findings from a Mendelian randomization study. | Lewis SJ et al. | 2014 | European journal of clinical nutrition |
| 24922540 | Genetic determinants of long-term changes in blood lipid concentrations: 10-year follow-up of the GLACIER study. | Varga TV et al. | 2014 | PLoS genetics |
| 24926413 | Design and implementation of a randomized controlled trial of genomic counseling for patients with chronic disease. | Sweet K et al. | 2014 | Journal of personalized medicine |
| 24931982 | GRASP: analysis of genotype-phenotype results from 1390 genome-wide association studies and corresponding open access database. | Leslie R et al. | 2014 | Bioinformatics (Oxford, England) |
| 25071582 | HFE gene variants, iron, and lipids: a novel connection in Alzheimer's disease. | Ali-Rahmani F et al. | 2014 | Frontiers in pharmacology |
| 25287020 | Maternal iron metabolism gene variants modify umbilical cord blood lead levels by gene-environment interaction: a birth cohort study. | Karwowski MP et al. | 2014 | Environmental health |
| 25302496 | Using multivariable Mendelian randomization to disentangle the causal effects of lipid fractions. | Burgess S et al. | 2014 | PloS one |
| 25361584 | Subgroups at high risk for ischaemic heart disease:identification and validation in 67 000 individuals from the general population. | Frikke-Schmidt R et al. | 2015 | International journal of epidemiology |
| 25741868 | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S et al. | 2015 | Genetics in medicine |
| 25933217 | Correction: A Systems Genetics Approach Identifies CXCL14, ITGAX, and LPCAT2 as Novel Aggressive Prostate Cancer Susceptibility Genes. | 2015 | PLoS genetics | |
| 26025379 | Genome-wide association study of toxic metals and trace elements reveals novel associations. | Ng E et al. | 2015 | Human molecular genetics |
| 26054392 | Natural selection on HFE in Asian populations contributes to enhanced non-heme iron absorption. | Ye K et al. | 2015 | BMC genetics |
| 26159428 | Iron and hepcidin as risk factors in atherosclerosis: what do the genes say? | Galesloot TE et al. | 2015 | BMC genetics |
| 26365338 | Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network. | Gallego CJ et al. | 2015 | American journal of human genetics |
| 26416403 | HFE p.C282Y gene variant is associated with varicose veins in Russian population. | Sokolova EA et al. | 2016 | Clinical and experimental medicine |
| 26420954 | Molecular prognostic prediction in liver cirrhosis. | Goossens N et al. | 2015 | World journal of gastroenterology |
| 26460247 | Genetic contribution to iron status: SNPs related to iron deficiency anaemia and fine mapping of CACNA2D3 calcium channel subunit. | Baeza-Richer C et al. | 2015 | Blood cells, molecules & diseases |
| 26582562 | Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in Liver. | Engelken J et al. | 2016 | Molecular biology and evolution |
| 26597663 | Genetic factors influencing ferritin levels in 14,126 blood donors: results from the Danish Blood Donor Study. | Sørensen E et al. | 2016 | Transfusion |
| 26632894 | Association of ABO and Colton Blood Group Gene Polymorphisms With Hematological Traits Variation. | Shahbazi S et al. | 2015 | Medicine |
| 26695521 | Mendelian Randomization - the Key to Understanding Aspects of Parkinson's Disease Causation? | Noyce AJ et al. | 2016 | Movement disorders |
| 27124787 | Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists. | Press RD et al. | 2016 | Genetics in medicine |
| 27221532 | Population-based analysis of the frequency of HFE gene polymorphisms: Correlation with the susceptibility to develop hereditary hemochromatosis. | Katsarou MS et al. | 2016 | Molecular medicine reports |
| 27255824 | Determinants of iron accumulation in the normal aging brain. | Pirpamer L et al. | 2016 | Neurobiology of aging |
| 27280446 | Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans. | McLachlan S et al. | 2016 | PloS one |
| 27317329 | Haplotype analysis of the HFE gene among populations of Northern Eurasia, in patients with metabolic disorders or stomach cancer, and in long-lived people. | Mikhailova SV et al. | 2016 | BMC genetics |
| 27547017 | Genetic factors that affect nonalcoholic fatty liver disease: A systematic clinical review. | Severson TJ et al. | 2016 | World journal of gastroenterology |
| 27584680 | Lead-Related Genetic Loci, Cumulative Lead Exposure and Incident Coronary Heart Disease: The Normative Aging Study. | Ding N et al. | 2016 | PloS one |
| 27657935 | Association between the HFE C282Y, H63D Polymorphisms and the Risks of Non-Alcoholic Fatty Liver Disease, Liver Cirrhosis and Hepatocellular Carcinoma: An Updated Systematic Review and Meta-Analysis of 5,758 Cases and 14,741 Controls. | Ye Q et al. | 2016 | PloS one |
| 27661980 | The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda. | Farrell CP et al. | 2016 | PloS one |
| 27846281 | Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin. | Galesloot TE et al. | 2016 | PloS one |
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| 28820869 | Necrotizing enterocolitis and high intestinal iron uptake due to genetic variants. | Göpel W et al. | 2018 | Pediatric research |
| 29167213 | Interaction of Dietary and Genetic Factors Influencing Body Iron Status and Risk of Type 2 Diabetes Within the EPIC-InterAct Study. | Meidtner K et al. | 2018 | Diabetes care |
| 29201641 | Iron-related gene variants and brain iron in multiple sclerosis and healthy individuals. | Hagemeier J et al. | 2018 | NeuroImage. Clinical |
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Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.