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.
rs855791
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr22:37066896 (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
- A>C / A>G / A>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.439967 (128818/292790, ALFA)A=0.361479 (95680/264690, TOPMED)A=0.353139 (49407/139908, GnomAD) (+ 22 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- TMPRSS6 : Missense Variant
- Publications
- 69 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 | 309260 | A=0.435190 | G=0.564810, T=0.000000 |
| European | Sub | 260492 | A=0.440935 | G=0.559065, T=0.000000 |
| African | Sub | 10340 | A=0.17369 | G=0.82631, T=0.00000 |
| African Others | Sub | 350 | A=0.100 | G=0.900, T=0.000 |
| African American | Sub | 9990 | A=0.1763 | G=0.8237, T=0.0000 |
| Asian | Sub | 3748 | A=0.5475 | G=0.4525, T=0.0000 |
| East Asian | Sub | 2396 | A=0.5434 | G=0.4566, T=0.0000 |
| Other Asian | Sub | 1352 | A=0.5547 | G=0.4453, T=0.0000 |
| Latin American 1 | Sub | 1066 | A=0.3780 | G=0.6220, T=0.0000 |
| Latin American 2 | Sub | 6438 | A=0.4831 | G=0.5169, T=0.0000 |
| South Asian | Sub | 4992 | A=0.5250 | G=0.4750, T=0.0000 |
| Other | Sub | 22184 | A=0.43928 | G=0.56072, T=0.00000 |
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 | 292790 | A=0.439967 | G=0.560033, T=0.000000 |
| Allele Frequency Aggregator | European | Sub | 250310 | A=0.441085 | G=0.558915, T=0.000000 |
| Allele Frequency Aggregator | Other | Sub | 20734 | A=0.44270 | G=0.55730, T=0.00000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 6438 | A=0.4831 | G=0.5169, T=0.0000 |
| Allele Frequency Aggregator | African | Sub | 5502 | A=0.1899 | G=0.8101, T=0.0000 |
| Allele Frequency Aggregator | South Asian | Sub | 4992 | A=0.5250 | G=0.4750, T=0.0000 |
| Allele Frequency Aggregator | Asian | Sub | 3748 | A=0.5475 | G=0.4525, T=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1066 | A=0.3780 | G=0.6220, T=0.0000 |
| TopMed | Global | Study-wide | 264690 | A=0.361479 | G=0.638521 |
| gnomAD - Genomes | Global | Study-wide | 139908 | A=0.353139 | G=0.646861 |
| gnomAD - Genomes | European | Sub | 75738 | A=0.42485 | G=0.57515 |
| gnomAD - Genomes | African | Sub | 41944 | A=0.15669 | G=0.84331 |
| gnomAD - Genomes | American | Sub | 13640 | A=0.48636 | G=0.51364 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3314 | A=0.4381 | G=0.5619 |
| gnomAD - Genomes | East Asian | Sub | 3120 | A=0.5494 | G=0.4506 |
| gnomAD - Genomes | Other | Sub | 2152 | A=0.3987 | G=0.6013 |
| The PAGE Study | Global | Study-wide | 78692 | A=0.34377 | G=0.65623 |
| The PAGE Study | AfricanAmerican | Sub | 32512 | A=0.16539 | G=0.83461 |
| The PAGE Study | Mexican | Sub | 10810 | A=0.45643 | G=0.54357 |
| The PAGE Study | Asian | Sub | 8314 | A=0.5545 | G=0.4455 |
| The PAGE Study | PuertoRican | Sub | 7916 | A=0.4058 | G=0.5942 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | A=0.5909 | G=0.4091 |
| The PAGE Study | Cuban | Sub | 4230 | A=0.4092 | G=0.5908 |
| The PAGE Study | Dominican | Sub | 3828 | A=0.3177 | G=0.6823 |
| The PAGE Study | CentralAmerican | Sub | 2450 | A=0.5233 | G=0.4767 |
| The PAGE Study | SouthAmerican | Sub | 1982 | A=0.5368 | G=0.4632 |
| The PAGE Study | NativeAmerican | Sub | 1260 | A=0.4087 | G=0.5913 |
| The PAGE Study | SouthAsian | Sub | 856 | A=0.505 | G=0.495 |
| 14KJPN | JAPANESE | Study-wide | 28258 | A=0.55970 | G=0.44030 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.56062 | G=0.43938 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | A=0.34138 | G=0.65862 |
| GO Exome Sequencing Project | European American | Sub | 8600 | A=0.4351 | G=0.5649 |
| GO Exome Sequencing Project | African American | Sub | 4406 | A=0.1584 | G=0.8416 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.3855 | G=0.6145 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.1008 | G=0.8992 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.3855 | G=0.6145 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.5441 | G=0.4559 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=0.5590 | G=0.4410 |
| 1000Genomes_30x | American | Sub | 980 | A=0.503 | G=0.497 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.3954 | G=0.6046 |
| 1000Genomes | African | Sub | 1322 | A=0.1006 | G=0.8994 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.5655 | G=0.4345 |
| 1000Genomes | Europe | Sub | 1006 | A=0.3877 | G=0.6123 |
| 1000Genomes | South Asian | Sub | 978 | A=0.543 | G=0.457 |
| 1000Genomes | American | Sub | 694 | A=0.513 | G=0.487 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.4281 | G=0.5719 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.4600 | G=0.5400 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.4469 | G=0.5531 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.5137 | G=0.4863, T=0.0000 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | A=0.4822 | G=0.5178 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | A=0.540 | G=0.460 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | A=0.546 | G=0.454 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | A=0.386 | G=0.614 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | A=0.463 | G=0.537 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | A=0.099 | G=0.901 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | A=0.727 | G=0.273 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | A=0.85 | G=0.15 |
| HapMap | Global | Study-wide | 1892 | A=0.3525 | G=0.6475 |
| HapMap | American | Sub | 770 | A=0.483 | G=0.517 |
| HapMap | African | Sub | 692 | A=0.092 | G=0.908 |
| HapMap | Asian | Sub | 254 | A=0.583 | G=0.417 |
| HapMap | Europe | Sub | 176 | A=0.472 | G=0.528 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.5038 | G=0.4962 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.423 | G=0.577 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.368 | G=0.632 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | A=0.438 | G=0.562 |
| SGDP_PRJ | Global | Study-wide | 376 | A=0.269 | G=0.729, T=0.003 |
| FINRISK | Finnish from FINRISK project | Study-wide | 298 | A=0.362 | G=0.638 |
| Qatari | Global | Study-wide | 216 | A=0.338 | G=0.662 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 66 | A=0.55 | G=0.45 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.38 | G=0.62 |
| Siberian | Global | Study-wide | 32 | A=0.34 | G=0.66 |
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 22 | NC_000022.11:g.37066896A>C |
| GRCh38.p14 chr 22 | NC_000022.11:g.37066896A>G |
| GRCh38.p14 chr 22 | NC_000022.11:g.37066896A>T |
| GRCh37.p13 chr 22 | NC_000022.10:g.37462936A>C |
| GRCh37.p13 chr 22 | NC_000022.10:g.37462936A>G |
| GRCh37.p13 chr 22 | NC_000022.10:g.37462936A>T |
| TMPRSS6 RefSeqGene (LRG_1128) | NG_012856.2:g.47668T>G |
| TMPRSS6 RefSeqGene (LRG_1128) | NG_012856.2:g.47668T>C |
| TMPRSS6 RefSeqGene (LRG_1128) | NG_012856.2:g.47668T>A |
Gene: TMPRSS6, transmembrane serine protease 6
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| TMPRSS6 transcript variant 3 | NM_001289001.2:c.2180T>G | V [GTC] > G [GGC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform 3 | NP_001275930.1:p.Val727Gly | V (Val) > G (Gly) | Missense Variant |
| TMPRSS6 transcript variant 3 | NM_001289001.2:c.2180T>C | V [GTC] > A [GCC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform 3 | NP_001275930.1:p.Val727Ala | V (Val) > A (Ala) | Missense Variant |
| TMPRSS6 transcript variant 3 | NM_001289001.2:c.2180T>A | V [GTC] > D [GAC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform 3 | NP_001275930.1:p.Val727Asp | V (Val) > D (Asp) | Missense Variant |
| TMPRSS6 transcript variant 1 | NM_001289000.2:c.2246T>G | V [GTC] > G [GGC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform 1 | NP_001275929.1:p.Val749Gly | V (Val) > G (Gly) | Missense Variant |
| TMPRSS6 transcript variant 1 | NM_001289000.2:c.2246T>C | V [GTC] > A [GCC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform 1 | NP_001275929.1:p.Val749Ala | V (Val) > A (Ala) | Missense Variant |
| TMPRSS6 transcript variant 1 | NM_001289000.2:c.2246T>A | V [GTC] > D [GAC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform 1 | NP_001275929.1:p.Val749Asp | V (Val) > D (Asp) | Missense Variant |
| TMPRSS6 transcript variant 2 | NM_153609.4:c.2180T>G | V [GTC] > G [GGC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform 3 | NP_705837.2:p.Val727Gly | V (Val) > G (Gly) | Missense Variant |
| TMPRSS6 transcript variant 2 | NM_153609.4:c.2180T>C | V [GTC] > A [GCC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform 3 | NP_705837.2:p.Val727Ala | V (Val) > A (Ala) | Missense Variant |
| TMPRSS6 transcript variant 2 | NM_153609.4:c.2180T>A | V [GTC] > D [GAC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform 3 | NP_705837.2:p.Val727Asp | V (Val) > D (Asp) | Missense Variant |
| TMPRSS6 transcript variant 4 | NM_001374504.1:c.2180T>G | V [GTC] > G [GGC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform 3 | NP_001361433.1:p.Val727Gly | V (Val) > G (Gly) | Missense Variant |
| TMPRSS6 transcript variant 4 | NM_001374504.1:c.2180T>C | V [GTC] > A [GCC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform 3 | NP_001361433.1:p.Val727Ala | V (Val) > A (Ala) | Missense Variant |
| TMPRSS6 transcript variant 4 | NM_001374504.1:c.2180T>A | V [GTC] > D [GAC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform 3 | NP_001361433.1:p.Val727Asp | V (Val) > D (Asp) | Missense Variant |
| TMPRSS6 transcript variant X1 | XM_024452168.2:c.2246T>G | V [GTC] > G [GGC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform X1 | XP_024307936.1:p.Val749Gly | V (Val) > G (Gly) | Missense Variant |
| TMPRSS6 transcript variant X1 | XM_024452168.2:c.2246T>C | V [GTC] > A [GCC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform X1 | XP_024307936.1:p.Val749Ala | V (Val) > A (Ala) | Missense Variant |
| TMPRSS6 transcript variant X1 | XM_024452168.2:c.2246T>A | V [GTC] > D [GAC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform X1 | XP_024307936.1:p.Val749Asp | V (Val) > D (Asp) | Missense Variant |
| TMPRSS6 transcript variant X2 | XM_024452167.2:c.2246T>G | V [GTC] > G [GGC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform X1 | XP_024307935.1:p.Val749Gly | V (Val) > G (Gly) | Missense Variant |
| TMPRSS6 transcript variant X2 | XM_024452167.2:c.2246T>C | V [GTC] > A [GCC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform X1 | XP_024307935.1:p.Val749Ala | V (Val) > A (Ala) | Missense Variant |
| TMPRSS6 transcript variant X2 | XM_024452167.2:c.2246T>A | V [GTC] > D [GAC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform X1 | XP_024307935.1:p.Val749Asp | V (Val) > D (Asp) | Missense Variant |
| TMPRSS6 transcript variant X3 | XM_011529989.3:c.1814T>G | V [GTC] > G [GGC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform X2 | XP_011528291.1:p.Val605Gly | V (Val) > G (Gly) | Missense Variant |
| TMPRSS6 transcript variant X3 | XM_011529989.3:c.1814T>C | V [GTC] > A [GCC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform X2 | XP_011528291.1:p.Val605Ala | V (Val) > A (Ala) | Missense Variant |
| TMPRSS6 transcript variant X3 | XM_011529989.3:c.1814T>A | V [GTC] > D [GAC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform X2 | XP_011528291.1:p.Val605Asp | V (Val) > D (Asp) | Missense Variant |
| TMPRSS6 transcript variant X4 | XM_047441170.1:c.1748T>G | V [GTC] > G [GGC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform X3 | XP_047297126.1:p.Val583Gly | V (Val) > G (Gly) | Missense Variant |
| TMPRSS6 transcript variant X4 | XM_047441170.1:c.1748T>C | V [GTC] > A [GCC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform X3 | XP_047297126.1:p.Val583Ala | V (Val) > A (Ala) | Missense Variant |
| TMPRSS6 transcript variant X4 | XM_047441170.1:c.1748T>A | V [GTC] > D [GAC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform X3 | XP_047297126.1:p.Val583Asp | V (Val) > D (Asp) | Missense Variant |
| TMPRSS6 transcript variant X5 | XM_047441171.1:c.1748T>G | V [GTC] > G [GGC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform X3 | XP_047297127.1:p.Val583Gly | V (Val) > G (Gly) | Missense Variant |
| TMPRSS6 transcript variant X5 | XM_047441171.1:c.1748T>C | V [GTC] > A [GCC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform X3 | XP_047297127.1:p.Val583Ala | V (Val) > A (Ala) | Missense Variant |
| TMPRSS6 transcript variant X5 | XM_047441171.1:c.1748T>A | V [GTC] > D [GAC] | Coding Sequence Variant |
| transmembrane protease serine 6 isoform X3 | XP_047297127.1:p.Val583Asp | V (Val) > D (Asp) | Missense 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: G (allele ID:
257670
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000246767.6 | not specified | Benign |
| RCV000384447.4 | Microcytic anemia | Benign |
| RCV001723861.5 | not provided | Benign |
| RCV001838608.3 | Iron-refractory iron deficiency anemia | Benign |
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 | A= | C | G | T |
|---|---|---|---|---|
| GRCh38.p14 chr 22 | NC_000022.11:g.37066896= | NC_000022.11:g.37066896A>C | NC_000022.11:g.37066896A>G | NC_000022.11:g.37066896A>T |
| GRCh37.p13 chr 22 | NC_000022.10:g.37462936= | NC_000022.10:g.37462936A>C | NC_000022.10:g.37462936A>G | NC_000022.10:g.37462936A>T |
| TMPRSS6 RefSeqGene (LRG_1128) | NG_012856.2:g.47668= | NG_012856.2:g.47668T>G | NG_012856.2:g.47668T>C | NG_012856.2:g.47668T>A |
| TMPRSS6 transcript variant 2 | NM_153609.4:c.2180= | NM_153609.4:c.2180T>G | NM_153609.4:c.2180T>C | NM_153609.4:c.2180T>A |
| TMPRSS6 transcript variant 2 | NM_153609.3:c.2207= | NM_153609.3:c.2207T>G | NM_153609.3:c.2207T>C | NM_153609.3:c.2207T>A |
| TMPRSS6 transcript | NM_153609.2:c.2207= | NM_153609.2:c.2207T>G | NM_153609.2:c.2207T>C | NM_153609.2:c.2207T>A |
| TMPRSS6 transcript variant 1 | NM_001289000.2:c.2246= | NM_001289000.2:c.2246T>G | NM_001289000.2:c.2246T>C | NM_001289000.2:c.2246T>A |
| TMPRSS6 transcript variant 1 | NM_001289000.1:c.2246= | NM_001289000.1:c.2246T>G | NM_001289000.1:c.2246T>C | NM_001289000.1:c.2246T>A |
| TMPRSS6 transcript variant 3 | NM_001289001.2:c.2180= | NM_001289001.2:c.2180T>G | NM_001289001.2:c.2180T>C | NM_001289001.2:c.2180T>A |
| TMPRSS6 transcript variant 3 | NM_001289001.1:c.2180= | NM_001289001.1:c.2180T>G | NM_001289001.1:c.2180T>C | NM_001289001.1:c.2180T>A |
| TMPRSS6 transcript variant 4 | NM_001374504.1:c.2180= | NM_001374504.1:c.2180T>G | NM_001374504.1:c.2180T>C | NM_001374504.1:c.2180T>A |
| TMPRSS6 transcript variant X3 | XM_011529989.3:c.1814= | XM_011529989.3:c.1814T>G | XM_011529989.3:c.1814T>C | XM_011529989.3:c.1814T>A |
| TMPRSS6 transcript variant X6 | XM_011529989.2:c.1814= | XM_011529989.2:c.1814T>G | XM_011529989.2:c.1814T>C | XM_011529989.2:c.1814T>A |
| TMPRSS6 transcript variant X5 | XM_011529989.1:c.1814= | XM_011529989.1:c.1814T>G | XM_011529989.1:c.1814T>C | XM_011529989.1:c.1814T>A |
| TMPRSS6 transcript variant X1 | XM_024452168.2:c.2246= | XM_024452168.2:c.2246T>G | XM_024452168.2:c.2246T>C | XM_024452168.2:c.2246T>A |
| TMPRSS6 transcript variant X2 | XM_024452168.1:c.2246= | XM_024452168.1:c.2246T>G | XM_024452168.1:c.2246T>C | XM_024452168.1:c.2246T>A |
| TMPRSS6 transcript variant X2 | XM_024452167.2:c.2246= | XM_024452167.2:c.2246T>G | XM_024452167.2:c.2246T>C | XM_024452167.2:c.2246T>A |
| TMPRSS6 transcript variant X1 | XM_024452167.1:c.2246= | XM_024452167.1:c.2246T>G | XM_024452167.1:c.2246T>C | XM_024452167.1:c.2246T>A |
| TMPRSS6 transcript variant X4 | XM_047441170.1:c.1748= | XM_047441170.1:c.1748T>G | XM_047441170.1:c.1748T>C | XM_047441170.1:c.1748T>A |
| TMPRSS6 transcript variant X5 | XM_047441171.1:c.1748= | XM_047441171.1:c.1748T>G | XM_047441171.1:c.1748T>C | XM_047441171.1:c.1748T>A |
| FLJ30744 transcript | NM_153019.1:c.*1241G>A | NM_153019.1:c.*1241G>C | NM_153019.1:c.*1241= | NM_153019.1:c.*1241G>T |
| transmembrane protease serine 6 isoform 3 | NP_705837.2:p.Val727= | NP_705837.2:p.Val727Gly | NP_705837.2:p.Val727Ala | NP_705837.2:p.Val727Asp |
| transmembrane protease serine 6 isoform 1 | NP_001275929.1:p.Val749= | NP_001275929.1:p.Val749Gly | NP_001275929.1:p.Val749Ala | NP_001275929.1:p.Val749Asp |
| transmembrane protease serine 6 isoform 3 | NP_001275930.1:p.Val727= | NP_001275930.1:p.Val727Gly | NP_001275930.1:p.Val727Ala | NP_001275930.1:p.Val727Asp |
| transmembrane protease serine 6 isoform 3 | NP_001361433.1:p.Val727= | NP_001361433.1:p.Val727Gly | NP_001361433.1:p.Val727Ala | NP_001361433.1:p.Val727Asp |
| transmembrane protease serine 6 isoform X2 | XP_011528291.1:p.Val605= | XP_011528291.1:p.Val605Gly | XP_011528291.1:p.Val605Ala | XP_011528291.1:p.Val605Asp |
| transmembrane protease serine 6 isoform X1 | XP_024307936.1:p.Val749= | XP_024307936.1:p.Val749Gly | XP_024307936.1:p.Val749Ala | XP_024307936.1:p.Val749Asp |
| transmembrane protease serine 6 isoform X1 | XP_024307935.1:p.Val749= | XP_024307935.1:p.Val749Gly | XP_024307935.1:p.Val749Ala | XP_024307935.1:p.Val749Asp |
| transmembrane protease serine 6 isoform X3 | XP_047297126.1:p.Val583= | XP_047297126.1:p.Val583Gly | XP_047297126.1:p.Val583Ala | XP_047297126.1:p.Val583Asp |
| transmembrane protease serine 6 isoform X3 | XP_047297127.1:p.Val583= | XP_047297127.1:p.Val583Gly | XP_047297127.1:p.Val583Ala | XP_047297127.1:p.Val583Asp |
| transmembrane protease serine 6 isoform 2 | NP_705837.1:p.Val736= | NP_705837.1:p.Val736Gly | NP_705837.1:p.Val736Ala | NP_705837.1:p.Val736Asp |
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#.
209 SubSNP,
31 Frequency,
4 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | KWOK | ss1244079 | Oct 05, 2000 (86) |
| 2 | KWOK | ss2048632 | Oct 18, 2000 (87) |
| 3 | TSC-CSHL | ss3070168 | Jun 15, 2001 (96) |
| 4 | YUSUKE | ss3189390 | Aug 15, 2001 (98) |
| 5 | SC_JCM | ss3872466 | Sep 28, 2001 (100) |
| 6 | SC_SNP | ss8296198 | Apr 21, 2003 (114) |
| 7 | SC_SNP | ss13359222 | Dec 05, 2003 (119) |
| 8 | CSHL-HAPMAP | ss16919379 | Feb 27, 2004 (120) |
| 9 | CSHL-HAPMAP | ss17715081 | Feb 27, 2004 (120) |
| 10 | PERLEGEN | ss24601298 | Sep 20, 2004 (123) |
| 11 | ABI | ss44317694 | Mar 13, 2006 (126) |
| 12 | APPLERA_GI | ss48416741 | Mar 13, 2006 (126) |
| 13 | ILLUMINA | ss66661500 | Nov 30, 2006 (127) |
| 14 | ILLUMINA | ss67881362 | Nov 30, 2006 (127) |
| 15 | ILLUMINA | ss68022227 | Nov 30, 2006 (127) |
| 16 | CSHL-HAPMAP | ss68405073 | Jan 12, 2007 (127) |
| 17 | PERLEGEN | ss69272756 | May 17, 2007 (127) |
| 18 | ILLUMINA | ss70975315 | May 25, 2008 (130) |
| 19 | ILLUMINA | ss71586858 | May 17, 2007 (127) |
| 20 | ILLUMINA | ss75519074 | Dec 06, 2007 (129) |
| 21 | SI_EXO | ss76888047 | Dec 06, 2007 (129) |
| 22 | HGSV | ss77148094 | Dec 06, 2007 (129) |
| 23 | ILLUMINA | ss79284426 | Dec 15, 2007 (130) |
| 24 | HGSV | ss81123200 | Dec 15, 2007 (130) |
| 25 | HGSV | ss81172079 | Dec 15, 2007 (130) |
| 26 | KRIBB_YJKIM | ss83581143 | Dec 15, 2007 (130) |
| 27 | HGSV | ss84248801 | Dec 15, 2007 (130) |
| 28 | BCMHGSC_JDW | ss91921442 | Mar 24, 2008 (129) |
| 29 | HUMANGENOME_JCVI | ss96125361 | Feb 05, 2009 (130) |
| 30 | BGI | ss106226917 | Feb 05, 2009 (130) |
| 31 | 1000GENOMES | ss112646986 | Jan 25, 2009 (130) |
| 32 | 1000GENOMES | ss114210492 | Jan 25, 2009 (130) |
| 33 | ILLUMINA-UK | ss117405243 | Feb 14, 2009 (130) |
| 34 | ILLUMINA | ss122920447 | Dec 01, 2009 (131) |
| 35 | ENSEMBL | ss138355438 | Dec 01, 2009 (131) |
| 36 | ENSEMBL | ss139448745 | Dec 01, 2009 (131) |
| 37 | ILLUMINA | ss154474407 | Dec 01, 2009 (131) |
| 38 | GMI | ss157180672 | Dec 01, 2009 (131) |
| 39 | ILLUMINA | ss159648891 | Dec 01, 2009 (131) |
| 40 | SEATTLESEQ | ss159744420 | Dec 01, 2009 (131) |
| 41 | ILLUMINA | ss160958603 | Dec 01, 2009 (131) |
| 42 | COMPLETE_GENOMICS | ss167946619 | Jul 04, 2010 (132) |
| 43 | COMPLETE_GENOMICS | ss169254774 | Jul 04, 2010 (132) |
| 44 | COMPLETE_GENOMICS | ss171977841 | Jul 04, 2010 (132) |
| 45 | ILLUMINA | ss172411392 | Jul 04, 2010 (132) |
| 46 | ILLUMINA | ss174751522 | Jul 04, 2010 (132) |
| 47 | BUSHMAN | ss204089585 | Jul 04, 2010 (132) |
| 48 | BCM-HGSC-SUB | ss208834597 | Jul 04, 2010 (132) |
| 49 | 1000GENOMES | ss228682801 | Jul 14, 2010 (132) |
| 50 | 1000GENOMES | ss238071683 | Jul 15, 2010 (132) |
| 51 | 1000GENOMES | ss244188996 | Jul 15, 2010 (132) |
| 52 | GMI | ss283637899 | May 04, 2012 (137) |
| 53 | GMI | ss287570234 | Apr 25, 2013 (138) |
| 54 | PJP | ss292761941 | May 09, 2011 (134) |
| 55 | NHLBI-ESP | ss342541927 | May 09, 2011 (134) |
| 56 | ILLUMINA | ss410840788 | Sep 17, 2011 (135) |
| 57 | ILLUMINA | ss410955398 | Sep 17, 2011 (135) |
| 58 | ILLUMINA | ss481811077 | May 04, 2012 (137) |
| 59 | ILLUMINA | ss481843598 | May 04, 2012 (137) |
| 60 | ILLUMINA | ss482804555 | Sep 08, 2015 (146) |
| 61 | ILLUMINA | ss485700214 | May 04, 2012 (137) |
| 62 | 1000GENOMES | ss491192345 | May 04, 2012 (137) |
| 63 | EXOME_CHIP | ss491571289 | May 04, 2012 (137) |
| 64 | CLINSEQ_SNP | ss491824122 | May 04, 2012 (137) |
| 65 | ILLUMINA | ss537565872 | Sep 08, 2015 (146) |
| 66 | TISHKOFF | ss566645074 | Apr 25, 2013 (138) |
| 67 | SSMP | ss662574839 | Apr 25, 2013 (138) |
| 68 | ILLUMINA | ss778629560 | Aug 21, 2014 (142) |
| 69 | ILLUMINA | ss780762294 | Aug 21, 2014 (142) |
| 70 | ILLUMINA | ss783295667 | Sep 08, 2015 (146) |
| 71 | ILLUMINA | ss783441329 | Aug 21, 2014 (142) |
| 72 | ILLUMINA | ss784248146 | Aug 21, 2014 (142) |
| 73 | ILLUMINA | ss825614944 | Apr 01, 2015 (144) |
| 74 | ILLUMINA | ss832556966 | Sep 08, 2015 (146) |
| 75 | ILLUMINA | ss833159712 | Jul 13, 2019 (153) |
| 76 | ILLUMINA | ss834087147 | Aug 21, 2014 (142) |
| 77 | JMKIDD_LAB | ss974512837 | Aug 21, 2014 (142) |
| 78 | EVA-GONL | ss995359212 | Aug 21, 2014 (142) |
| 79 | JMKIDD_LAB | ss1067606150 | Aug 21, 2014 (142) |
| 80 | JMKIDD_LAB | ss1082663992 | Aug 21, 2014 (142) |
| 81 | 1000GENOMES | ss1367192260 | Aug 21, 2014 (142) |
| 82 | DDI | ss1429258833 | Apr 01, 2015 (144) |
| 83 | EVA_GENOME_DK | ss1579755841 | Apr 01, 2015 (144) |
| 84 | EVA_FINRISK | ss1584127791 | Apr 01, 2015 (144) |
| 85 | EVA_UK10K_ALSPAC | ss1640009754 | Apr 01, 2015 (144) |
| 86 | EVA_UK10K_TWINSUK | ss1683003787 | Apr 01, 2015 (144) |
| 87 | EVA_EXAC | ss1694332876 | Apr 01, 2015 (144) |
| 88 | EVA_EXAC | ss1694332877 | Apr 01, 2015 (144) |
| 89 | EVA_DECODE | ss1699429367 | Apr 01, 2015 (144) |
| 90 | EVA_MGP | ss1711568837 | Apr 01, 2015 (144) |
| 91 | EVA_SVP | ss1713741786 | Apr 01, 2015 (144) |
| 92 | ILLUMINA | ss1752421108 | Sep 08, 2015 (146) |
| 93 | ILLUMINA | ss1752421109 | Sep 08, 2015 (146) |
| 94 | HAMMER_LAB | ss1809792125 | Sep 08, 2015 (146) |
| 95 | ILLUMINA | ss1917955667 | Feb 12, 2016 (147) |
| 96 | WEILL_CORNELL_DGM | ss1938925697 | Feb 12, 2016 (147) |
| 97 | ILLUMINA | ss1946590679 | Feb 12, 2016 (147) |
| 98 | ILLUMINA | ss1946590682 | Feb 12, 2016 (147) |
| 99 | ILLUMINA | ss1959979984 | Feb 12, 2016 (147) |
| 100 | ILLUMINA | ss1959979985 | Feb 12, 2016 (147) |
| 101 | GENOMED | ss1969274176 | Jul 19, 2016 (147) |
| 102 | JJLAB | ss2030235063 | Sep 14, 2016 (149) |
| 103 | USC_VALOUEV | ss2158854232 | Dec 20, 2016 (150) |
| 104 | HUMAN_LONGEVITY | ss2247386369 | Dec 20, 2016 (150) |
| 105 | SYSTEMSBIOZJU | ss2629614784 | Nov 08, 2017 (151) |
| 106 | ILLUMINA | ss2633879323 | Nov 08, 2017 (151) |
| 107 | GRF | ss2704606206 | Nov 08, 2017 (151) |
| 108 | ILLUMINA | ss2710958109 | Nov 08, 2017 (151) |
| 109 | GNOMAD | ss2745120079 | Nov 08, 2017 (151) |
| 110 | GNOMAD | ss2750549455 | Nov 08, 2017 (151) |
| 111 | GNOMAD | ss2974459996 | Nov 08, 2017 (151) |
| 112 | AFFY | ss2985238721 | Nov 08, 2017 (151) |
| 113 | AFFY | ss2985855211 | Nov 08, 2017 (151) |
| 114 | SWEGEN | ss3019315513 | Nov 08, 2017 (151) |
| 115 | ILLUMINA | ss3022186803 | Nov 08, 2017 (151) |
| 116 | ILLUMINA | ss3022186804 | Nov 08, 2017 (151) |
| 117 | EVA_SAMSUNG_MC | ss3023073515 | Nov 08, 2017 (151) |
| 118 | BIOINF_KMB_FNS_UNIBA | ss3028954784 | Nov 08, 2017 (151) |
| 119 | CSHL | ss3352841417 | Nov 08, 2017 (151) |
| 120 | ILLUMINA | ss3625802899 | Oct 12, 2018 (152) |
| 121 | ILLUMINA | ss3628536085 | Oct 12, 2018 (152) |
| 122 | ILLUMINA | ss3628536086 | Oct 12, 2018 (152) |
| 123 | ILLUMINA | ss3631830565 | Oct 12, 2018 (152) |
| 124 | ILLUMINA | ss3633273561 | Oct 12, 2018 (152) |
| 125 | ILLUMINA | ss3633989353 | Oct 12, 2018 (152) |
| 126 | ILLUMINA | ss3634868179 | Oct 12, 2018 (152) |
| 127 | ILLUMINA | ss3634868180 | Oct 12, 2018 (152) |
| 128 | ILLUMINA | ss3635673791 | Oct 12, 2018 (152) |
| 129 | ILLUMINA | ss3636563988 | Oct 12, 2018 (152) |
| 130 | ILLUMINA | ss3637426032 | Oct 12, 2018 (152) |
| 131 | ILLUMINA | ss3638383160 | Oct 12, 2018 (152) |
| 132 | ILLUMINA | ss3639195375 | Oct 12, 2018 (152) |
| 133 | ILLUMINA | ss3639614432 | Oct 12, 2018 (152) |
| 134 | ILLUMINA | ss3640575483 | Oct 12, 2018 (152) |
| 135 | ILLUMINA | ss3640575484 | Oct 12, 2018 (152) |
| 136 | ILLUMINA | ss3641138337 | Oct 12, 2018 (152) |
| 137 | ILLUMINA | ss3641434787 | Oct 12, 2018 (152) |
| 138 | ILLUMINA | ss3643342841 | Oct 12, 2018 (152) |
| 139 | ILLUMINA | ss3644800524 | Oct 12, 2018 (152) |
| 140 | ILLUMINA | ss3644800525 | Oct 12, 2018 (152) |
| 141 | OMUKHERJEE_ADBS | ss3646567223 | Oct 12, 2018 (152) |
| 142 | URBANLAB | ss3651181107 | Oct 12, 2018 (152) |
| 143 | ILLUMINA | ss3652650230 | Oct 12, 2018 (152) |
| 144 | ILLUMINA | ss3652650231 | Oct 12, 2018 (152) |
| 145 | ILLUMINA | ss3654006824 | Oct 12, 2018 (152) |
| 146 | EGCUT_WGS | ss3685811099 | Jul 13, 2019 (153) |
| 147 | EVA_DECODE | ss3708215533 | Jul 13, 2019 (153) |
| 148 | ILLUMINA | ss3725969217 | Jul 13, 2019 (153) |
| 149 | ACPOP | ss3743940962 | Jul 13, 2019 (153) |
| 150 | ILLUMINA | ss3744206964 | Jul 13, 2019 (153) |
| 151 | ILLUMINA | ss3744502824 | Jul 13, 2019 (153) |
| 152 | ILLUMINA | ss3745168027 | Jul 13, 2019 (153) |
| 153 | ILLUMINA | ss3745168028 | Jul 13, 2019 (153) |
| 154 | EVA | ss3759392108 | Jul 13, 2019 (153) |
| 155 | PAGE_CC | ss3772091894 | Jul 13, 2019 (153) |
| 156 | ILLUMINA | ss3772663926 | Jul 13, 2019 (153) |
| 157 | ILLUMINA | ss3772663927 | Jul 13, 2019 (153) |
| 158 | PACBIO | ss3788828872 | Jul 13, 2019 (153) |
| 159 | PACBIO | ss3793694205 | Jul 13, 2019 (153) |
| 160 | PACBIO | ss3798580674 | Jul 13, 2019 (153) |
| 161 | KHV_HUMAN_GENOMES | ss3822554850 | Jul 13, 2019 (153) |
| 162 | EVA | ss3825444796 | Apr 27, 2020 (154) |
| 163 | EVA | ss3825534263 | Apr 27, 2020 (154) |
| 164 | EVA | ss3825548497 | Apr 27, 2020 (154) |
| 165 | EVA | ss3825970555 | Apr 27, 2020 (154) |
| 166 | EVA | ss3835996028 | Apr 27, 2020 (154) |
| 167 | EVA | ss3841626271 | Apr 27, 2020 (154) |
| 168 | EVA | ss3847141343 | Apr 27, 2020 (154) |
| 169 | HGDP | ss3847689637 | Apr 27, 2020 (154) |
| 170 | SGDP_PRJ | ss3890561446 | Apr 27, 2020 (154) |
| 171 | KRGDB | ss3940960134 | Apr 27, 2020 (154) |
| 172 | KOGIC | ss3983653583 | Apr 27, 2020 (154) |
| 173 | FSA-LAB | ss3984235367 | Apr 26, 2021 (155) |
| 174 | EVA | ss3984760606 | Apr 26, 2021 (155) |
| 175 | EVA | ss3984760607 | Apr 26, 2021 (155) |
| 176 | EVA | ss3985918380 | Apr 26, 2021 (155) |
| 177 | EVA | ss3986087761 | Apr 26, 2021 (155) |
| 178 | EVA | ss3986862534 | Apr 26, 2021 (155) |
| 179 | TOPMED | ss5109454403 | Apr 26, 2021 (155) |
| 180 | TOMMO_GENOMICS | ss5232658656 | Apr 26, 2021 (155) |
| 181 | EVA | ss5236991150 | Apr 26, 2021 (155) |
| 182 | EVA | ss5237256040 | Apr 26, 2021 (155) |
| 183 | EVA | ss5237676410 | Oct 16, 2022 (156) |
| 184 | 1000G_HIGH_COVERAGE | ss5311126199 | Oct 16, 2022 (156) |
| 185 | TRAN_CS_UWATERLOO | ss5314457755 | Oct 16, 2022 (156) |
| 186 | EVA | ss5316057751 | Oct 16, 2022 (156) |
| 187 | EVA | ss5441348674 | Oct 16, 2022 (156) |
| 188 | HUGCELL_USP | ss5502965954 | Oct 16, 2022 (156) |
| 189 | EVA | ss5512383753 | Oct 16, 2022 (156) |
| 190 | 1000G_HIGH_COVERAGE | ss5618693416 | Oct 16, 2022 (156) |
| 191 | EVA | ss5623983766 | Oct 16, 2022 (156) |
| 192 | EVA | ss5624122521 | Oct 16, 2022 (156) |
| 193 | SANFORD_IMAGENETICS | ss5624503380 | Oct 16, 2022 (156) |
| 194 | SANFORD_IMAGENETICS | ss5664508086 | Oct 16, 2022 (156) |
| 195 | TOMMO_GENOMICS | ss5793788823 | Oct 16, 2022 (156) |
| 196 | EVA | ss5800041551 | Oct 16, 2022 (156) |
| 197 | EVA | ss5800075692 | Oct 16, 2022 (156) |
| 198 | EVA | ss5800236186 | Oct 16, 2022 (156) |
| 199 | YY_MCH | ss5818719246 | Oct 16, 2022 (156) |
| 200 | EVA | ss5822082962 | Oct 16, 2022 (156) |
| 201 | EVA | ss5847518595 | Oct 16, 2022 (156) |
| 202 | EVA | ss5847944626 | Oct 16, 2022 (156) |
| 203 | EVA | ss5848568030 | Oct 16, 2022 (156) |
| 204 | EVA | ss5853397405 | Oct 16, 2022 (156) |
| 205 | EVA | ss5881850835 | Oct 16, 2022 (156) |
| 206 | EVA | ss5936580420 | Oct 16, 2022 (156) |
| 207 | EVA | ss5959364419 | Oct 16, 2022 (156) |
| 208 | EVA | ss5979637732 | Oct 16, 2022 (156) |
| 209 | EVA | ss5981322241 | Oct 16, 2022 (156) |
| 210 | 1000Genomes | NC_000022.10 - 37462936 | Oct 12, 2018 (152) |
| 211 | 1000Genomes_30x | NC_000022.11 - 37066896 | Oct 16, 2022 (156) |
| 212 | The Avon Longitudinal Study of Parents and Children | NC_000022.10 - 37462936 | Oct 12, 2018 (152) |
| 213 | Genetic variation in the Estonian population | NC_000022.10 - 37462936 | Oct 12, 2018 (152) |
| 214 |
ExAC
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 215 |
ExAC
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 216 | FINRISK | NC_000022.10 - 37462936 | Apr 27, 2020 (154) |
| 217 | The Danish reference pan genome | NC_000022.10 - 37462936 | Apr 27, 2020 (154) |
| 218 | gnomAD - Genomes | NC_000022.11 - 37066896 | Apr 26, 2021 (155) |
| 219 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 220 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 221 | GO Exome Sequencing Project | NC_000022.10 - 37462936 | Oct 12, 2018 (152) |
| 222 | Genome of the Netherlands Release 5 | NC_000022.10 - 37462936 | Apr 27, 2020 (154) |
| 223 | HGDP-CEPH-db Supplement 1 | NC_000022.9 - 35792882 | Apr 27, 2020 (154) |
| 224 | HapMap | NC_000022.11 - 37066896 | Apr 27, 2020 (154) |
| 225 | KOREAN population from KRGDB | NC_000022.10 - 37462936 | Apr 27, 2020 (154) |
| 226 | Korean Genome Project | NC_000022.11 - 37066896 | Apr 27, 2020 (154) |
| 227 | Medical Genome Project healthy controls from Spanish population | NC_000022.10 - 37462936 | Apr 27, 2020 (154) |
| 228 | Northern Sweden | NC_000022.10 - 37462936 | Jul 13, 2019 (153) |
| 229 | The PAGE Study | NC_000022.11 - 37066896 | Jul 13, 2019 (153) |
| 230 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000022.10 - 37462936 | Apr 26, 2021 (155) |
| 231 |
CNV burdens in cranial meningiomas
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 232 |
CNV burdens in cranial meningiomas
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 233 | Qatari | NC_000022.10 - 37462936 | Apr 27, 2020 (154) |
| 234 | SGDP_PRJ | NC_000022.10 - 37462936 | Apr 27, 2020 (154) |
| 235 | Siberian | NC_000022.10 - 37462936 | Apr 27, 2020 (154) |
| 236 | 8.3KJPN | NC_000022.10 - 37462936 | Apr 26, 2021 (155) |
| 237 | 14KJPN | NC_000022.11 - 37066896 | Oct 16, 2022 (156) |
| 238 | TopMed | NC_000022.11 - 37066896 | Apr 26, 2021 (155) |
| 239 | UK 10K study - Twins | NC_000022.10 - 37462936 | Oct 12, 2018 (152) |
| 240 | ALFA | NC_000022.11 - 37066896 | Apr 26, 2021 (155) |
| 241 | ClinVar | RCV000246767.6 | Oct 16, 2022 (156) |
| 242 | ClinVar | RCV000384447.4 | Oct 16, 2022 (156) |
| 243 | ClinVar | RCV001723861.5 | Oct 16, 2022 (156) |
| 244 | ClinVar | RCV001838608.3 | Oct 16, 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) |
|---|---|
| rs17749938 | Oct 07, 2004 (123) |
| rs59898578 | May 25, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss5981322241 | NC_000022.10:37462935:A:C | NC_000022.11:37066895:A:C | |
| ss77148094, ss81123200, ss81172079, ss84248801, ss3639195375, ss3639614432 | NC_000022.8:35787435:A:G | NC_000022.11:37066895:A:G | (self) |
| 367529, ss91921442, ss112646986, ss114210492, ss117405243, ss160958603, ss167946619, ss169254774, ss171977841, ss204089585, ss208834597, ss283637899, ss287570234, ss292761941, ss410840788, ss481811077, ss491824122, ss825614944, ss1699429367, ss1713741786, ss3643342841, ss3847689637 | NC_000022.9:35792881:A:G | NC_000022.11:37066895:A:G | (self) |
| 80745389, 44665761, 31549347, 124252, 5920780, 1901628, 19903486, 48137528, 684597, 17225827, 1144307, 20967619, 42578426, 11370586, 90627963, 44665761, ss228682801, ss238071683, ss244188996, ss342541927, ss481843598, ss482804555, ss485700214, ss491192345, ss491571289, ss537565872, ss566645074, ss662574839, ss778629560, ss780762294, ss783295667, ss783441329, ss784248146, ss832556966, ss833159712, ss834087147, ss974512837, ss995359212, ss1067606150, ss1082663992, ss1367192260, ss1429258833, ss1579755841, ss1584127791, ss1640009754, ss1683003787, ss1694332876, ss1711568837, ss1752421108, ss1752421109, ss1809792125, ss1917955667, ss1938925697, ss1946590679, ss1946590682, ss1959979984, ss1959979985, ss1969274176, ss2030235063, ss2158854232, ss2629614784, ss2633879323, ss2704606206, ss2710958109, ss2745120079, ss2750549455, ss2974459996, ss2985238721, ss2985855211, ss3019315513, ss3022186803, ss3022186804, ss3023073515, ss3352841417, ss3625802899, ss3628536085, ss3628536086, ss3631830565, ss3633273561, ss3633989353, ss3634868179, ss3634868180, ss3635673791, ss3636563988, ss3637426032, ss3638383160, ss3640575483, ss3640575484, ss3641138337, ss3641434787, ss3644800524, ss3644800525, ss3646567223, ss3652650230, ss3652650231, ss3654006824, ss3685811099, ss3743940962, ss3744206964, ss3744502824, ss3745168027, ss3745168028, ss3759392108, ss3772663926, ss3772663927, ss3788828872, ss3793694205, ss3798580674, ss3825444796, ss3825534263, ss3825548497, ss3825970555, ss3835996028, ss3841626271, ss3890561446, ss3940960134, ss3984235367, ss3984760606, ss3984760607, ss3985918380, ss3986087761, ss3986862534, ss5232658656, ss5316057751, ss5441348674, ss5512383753, ss5623983766, ss5624122521, ss5624503380, ss5664508086, ss5800041551, ss5800075692, ss5800236186, ss5822082962, ss5847518595, ss5847944626, ss5848568030, ss5936580420, ss5959364419, ss5979637732, ss5981322241 | NC_000022.10:37462935:A:G | NC_000022.11:37066895:A:G | (self) |
| RCV000246767.6, RCV000384447.4, RCV001723861.5, RCV001838608.3, 106219351, 570171080, 2257371, 40031584, 1313363, 127625927, 384563350, 1359460612, ss2247386369, ss3028954784, ss3651181107, ss3708215533, ss3725969217, ss3772091894, ss3822554850, ss3847141343, ss3983653583, ss5109454403, ss5236991150, ss5237256040, ss5237676410, ss5311126199, ss5314457755, ss5502965954, ss5618693416, ss5793788823, ss5818719246, ss5853397405, ss5881850835 | NC_000022.11:37066895:A:G | NC_000022.11:37066895:A:G | (self) |
| ss13359222, ss16919379, ss17715081 | NT_011520.9:16771989:A:G | NC_000022.11:37066895:A:G | (self) |
| ss76888047 | NT_011520.11:16853450:A:G | NC_000022.11:37066895:A:G | (self) |
| ss1244079, ss2048632, ss3070168, ss3189390, ss3872466, ss8296198, ss24601298, ss44317694, ss48416741, ss66661500, ss67881362, ss68022227, ss68405073, ss69272756, ss70975315, ss71586858, ss75519074, ss79284426, ss83581143, ss96125361, ss106226917, ss122920447, ss138355438, ss139448745, ss154474407, ss157180672, ss159648891, ss159744420, ss172411392, ss174751522, ss410955398 | NT_011520.12:16853504:A:G | NC_000022.11:37066895:A:G | (self) |
| 48137528, 42578426, ss1694332877, ss2745120079, ss3890561446, ss3940960134 | NC_000022.10:37462935:A:T | NC_000022.11:37066895:A:T | (self) |
| 1359460612 | NC_000022.11:37066895:A:T | NC_000022.11:37066895:A:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
69
citations for rs855791
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 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 |
| 19880490 | A genome-wide association analysis of serum iron concentrations. | Tanaka T et al. | 2010 | Blood |
| 20858683 | Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. | Soranzo N et al. | 2010 | Diabetes |
| 20927387 | A genome-wide association study of red blood cell traits using the electronic medical record. | Kullo IJ et al. | 2010 | PloS one |
| 21115529 | Genetics and genomics of human ageing. | Wheeler HE et al. | 2011 | Philosophical transactions of the Royal Society of London. Series B, Biological sciences |
| 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 |
| 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 |
| 21483845 | Genome-wide association study identifies genetic loci associated with iron deficiency. | McLaren CE et al. | 2011 | PloS one |
| 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 |
| 21873547 | TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals. | Nai A et al. | 2011 | Blood |
| 21975967 | Genetic determinants of variability in glycated hemoglobin (HbA(1c)) in humans: review of recent progress and prospects for use in diabetes care. | Soranzo N et al. | 2011 | Current diabetes reports |
| 21978626 | Four variants in transferrin and HFE genes as potential markers of iron deficiency anaemia risk: an association study in menstruating women. | Blanco-Rojo R et al. | 2011 | Nutrition & metabolism |
| 22301935 | Association of TMPRSS6 polymorphisms with ferritin, hemoglobin, and type 2 diabetes risk in a Chinese Han population. | Gan W et al. | 2012 | The American journal of clinical nutrition |
| 22323359 | TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia. | An P et al. | 2012 | Human molecular genetics |
| 22509377 | Candidate gene sequencing of SLC11A2 and TMPRSS6 in a family with severe anaemia: common SNPs, rare haplotypes, no causative mutation. | Kloss-Brandstätter A et al. | 2012 | PloS one |
| 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 |
| 22815867 | Genetic determinants for body iron store and type 2 diabetes risk in US men and women. | He M et al. | 2012 | PloS one |
| 22885719 | Effect of the A736V TMPRSS6 polymorphism on the penetrance and clinical expression of hereditary hemochromatosis. | Valenti L et al. | 2012 | Journal of hepatology |
| 23092954 | SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits. | Meirelles OD et al. | 2013 | European journal of human genetics |
| 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 |
| 24801367 | A candidate gene approach for identifying differential iron responses in young overweight women to an energy-restricted haem iron-rich diet. | Cheng HL et al. | 2014 | European journal of clinical nutrition |
| 24966834 | The role of TMPRSS6/matriptase-2 in iron regulation and anemia. | Wang CY et al. | 2014 | Frontiers in pharmacology |
| 25416640 | Inter-ethnic differences in genetic variants within the transmembrane protease, serine 6 (TMPRSS6) gene associated with iron status indicators: a systematic review with meta-analyses. | Gichohi-Wainaina WN et al. | 2015 | Genes & nutrition |
| 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 |
| 26159428 | Iron and hepcidin as risk factors in atherosclerosis: what do the genes say? | Galesloot TE et al. | 2015 | BMC genetics |
| 26263361 | About TMPRSS6 rs855791 polymorphism, iron metabolism and celiac disease. | Zanella I et al. | 2015 | The American journal of gastroenterology |
| 26446360 | Mendelian randomization studies of biomarkers and type 2 diabetes. | Abbasi A et al. | 2015 | Endocrine connections |
| 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 |
| 26648684 | Update on genetics and diabetic retinopathy. | Hampton BM et al. | 2015 | Clinical ophthalmology (Auckland, N.Z.) |
| 26695521 | Mendelian Randomization - the Key to Understanding Aspects of Parkinson's Disease Causation? | Noyce AJ et al. | 2016 | Movement disorders |
| 26746433 | Multiple sclerosis-like diagnosis as a complication of previously treated malaria in an iron and vitamin D deficient Nigerian patient. | van Rensburg SJ et al. | 2016 | Metabolic brain disease |
| 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 |
| 27437086 | Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences. | Eom SY et al. | 2016 | Toxicological research |
| 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 |
| 28684612 | The Effect of Iron Status on Risk of Coronary Artery Disease: A Mendelian Randomization Study-Brief Report. | Gill D et al. | 2017 | Arteriosclerosis, thrombosis, and vascular biology |
| 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 |
| 29928945 | The role of TMPRSS6 gene variants in iron-related hematological parameters in Turkish patients with iron deficiency anemia. | Batar B et al. | 2018 | Gene |
| 30111473 | [Association of FokI rs2228570 and TMPRSS6 rs855791 polymorphisms with cow's milk protein allergy in children]. | Zhang Y et al. | 2018 | Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics |
| 30536387 | Genetic factors influencing hemoglobin levels in 15,567 blood donors: results from the Danish Blood Donor Study. | Sørensen E et al. | 2019 | Transfusion |
| 30593316 | [Association between the polymorphisms of TMPRSS6 and the levels of serum ferrtin and soluble transferrin receptor in pregnant women in Lüliang Area of Shanxi Province]. | Piao W et al. | 2018 | Wei sheng yan jiu = Journal of hygiene research |
| 30911357 | TMPRSS6 rs855791 polymorphism and susceptibility to iron deficiency anaemia in non-dialysis chronic kidney disease patients in South Africa. | Nalado AM et al. | 2019 | International journal of molecular epidemiology and genetics |
| 31010126 | The Association of TMPRSS6 Gene Polymorphism and Iron Intake with Iron Status among Under-Two-Year-Old Children in Lombok, Indonesia. | Shinta D et al. | 2019 | Nutrients |
| 31097152 | Associations between single nucleotide polymorphisms and erythrocyte parameters in humans: A systematic literature review. | Timmer T et al. | 2019 | Mutation research. Reviews in mutation research |
| 31194788 | GWAS and PheWAS of red blood cell components in a Northern Nevadan cohort. | Read RW et al. | 2019 | PloS one |
| 31220083 | Associations of genetically determined iron status across the phenome: A mendelian randomization study. | Gill D et al. | 2019 | PLoS medicine |
| 31226389 | Genetic studies of abdominal MRI data identify genes regulating hepcidin as major determinants of liver iron concentration. | Wilman HR et al. | 2019 | Journal of hepatology |
| 32363518 | Associations of TMPRSS6 Polymorphisms with Gestational Diabetes Mellitus in Chinese Han Pregnant Women: a Preliminary Cohort Study. | Liu PJ et al. | 2021 | Biological trace element research |
| 32385772 | An investigation of the relationship between TMPRSS6 gene expression, genetic variants and clinical findings in breast cancer. | Mete M et al. | 2020 | Molecular biology reports |
| 32422234 | Study the association of transmembrane serine protease 6 gene polymorphisms with iron deficiency status in Saudi Arabia. | Al-Amer O et al. | 2020 | Gene |
| 33054130 | The <em>TMPRSS6</em> variant (SNP rs855791) affects iron metabolism and oral iron absorption - a stable iron isotope study in Taiwanese women. | Buerkli S et al. | 2021 | Haematologica |
| 33193643 | A Family Affected by a Life-Threatening Erythrocyte Defect Caused by Pyruvate Kinase Deficiency With Normal Iron Status: A Case Report. | Maciak K et al. | 2020 | Frontiers in genetics |
| 33272965 | Ziltivekimab for Treatment of Anemia of Inflammation in Patients on Hemodialysis: Results from a Phase 1/2 Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial. | Pergola PE et al. | 2021 | Journal of the American Society of Nephrology |
| 33367529 | Molecular analysis of homeostatic iron regulator, transmembrane protease serine-6, and BTB domain-containing protein-9 variants and iron parameters in blood donors. | Fawzy MS et al. | 2021 | Bioscience reports |
| 33424363 | Role of TMPRSS6 rs855791 (T > C) polymorphism in reproductive age women with iron deficiency anemia from Lahore, Pakistan. | Lone NM et al. | 2021 | Saudi journal of biological sciences |
| 33817543 | Common Variants in the TMPRSS6 Gene Alter Hepcidin but not Plasma Iron in Response to Oral Iron in Healthy Gambian Adults: A Recall-by-Genotype Study. | Jallow MW et al. | 2021 | Current developments in nutrition |
| 33850216 | Association of common TMPRSS6 and TF gene variants with hepcidin and iron status in healthy rural Gambians. | Jallow MW et al. | 2021 | Scientific reports |
| 34085096 | Dietary iron to total energy intake ratio and type 2 diabetes incidence in a longitudinal 12-year analysis of the Korean Genome and Epidemiology Cohort Study. | Jung DH et al. | 2021 | European journal of nutrition |
| 34104963 | Assessing the impact of alcohol consumption on the genetic contribution to mean corpuscular volume. | Thompson A et al. | 2021 | Human molecular genetics |
| 34444942 | TMPRSS6 rs855791 Polymorphism Status in Children with Celiac Disease and Anemia. | Urbaszek K et al. | 2021 | Nutrients |
| 34488438 | Epidemiologic and Genetic Associations of Erythropoietin With Blood Pressure, Hypertension, and Coronary Artery Disease. | Sun P et al. | 2021 | Hypertension (Dallas, Tex. |
| 34790739 | Association between serum iron status and primary liver cancer risk: a Mendelian randomization analysis. | Tian T et al. | 2021 | Annals of translational medicine |
| 35052344 | Genotype Score for Iron Status Is Associated with Muscle Fiber Composition in Women. | Takaragawa M et al. | 2021 | Genes |
| 35124268 | Mendelian Randomization Analysis Reveals No Causal Relationship Between Nonalcoholic Fatty Liver Disease and Severe COVID-19. | Li J et al. | 2022 | Clinical gastroenterology and hepatology |
| 35811987 | Causal Relationship of Genetically Predicted Serum Micronutrients Levels With Sarcopenia: A Mendelian Randomization Study. | Sha T et al. | 2022 | Frontiers in nutrition |
| 36014764 | Appraising the Causal Association between Systemic Iron Status and Heart Failure Risk: A Mendelian Randomisation Study. | Wang X et al. | 2022 | Nutrients |
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
Top▲
Help
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.