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.
rs4988235
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr2:135851076 (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 / G>C / G>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.359012 (95027/264690, TOPMED)G=0.494832 (77561/156742, ALFA)A=0.409762 (57388/140052, GnomAD) (+ 14 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- MCM6 : Intron Variant
- Publications
- 98 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 | 156742 | G=0.494832 | A=0.505168, T=0.000000 |
| European | Sub | 133190 | G=0.456934 | A=0.543066, T=0.000000 |
| African | Sub | 6590 | G=0.8818 | A=0.1182, T=0.0000 |
| African Others | Sub | 230 | G=0.983 | A=0.017, T=0.000 |
| African American | Sub | 6360 | G=0.8781 | A=0.1219, T=0.0000 |
| Asian | Sub | 412 | G=0.993 | A=0.007, T=0.000 |
| East Asian | Sub | 312 | G=0.994 | A=0.006, T=0.000 |
| Other Asian | Sub | 100 | G=0.99 | A=0.01, T=0.00 |
| Latin American 1 | Sub | 702 | G=0.650 | A=0.350, T=0.000 |
| Latin American 2 | Sub | 6072 | G=0.7930 | A=0.2070, T=0.0000 |
| South Asian | Sub | 174 | G=0.851 | A=0.149, T=0.000 |
| Other | Sub | 9602 | G=0.5273 | A=0.4727, T=0.0000 |
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 |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | G=0.640988 | A=0.359012 |
| Allele Frequency Aggregator | Total | Global | 156742 | G=0.494832 | A=0.505168, T=0.000000 |
| Allele Frequency Aggregator | European | Sub | 133190 | G=0.456934 | A=0.543066, T=0.000000 |
| Allele Frequency Aggregator | Other | Sub | 9602 | G=0.5273 | A=0.4727, T=0.0000 |
| Allele Frequency Aggregator | African | Sub | 6590 | G=0.8818 | A=0.1182, T=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 6072 | G=0.7930 | A=0.2070, T=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 702 | G=0.650 | A=0.350, T=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 412 | G=0.993 | A=0.007, T=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 174 | G=0.851 | A=0.149, T=0.000 |
| gnomAD - Genomes | Global | Study-wide | 140052 | G=0.590238 | A=0.409762 |
| gnomAD - Genomes | European | Sub | 75826 | G=0.36836 | A=0.63164 |
| gnomAD - Genomes | African | Sub | 41984 | G=0.87517 | A=0.12483 |
| gnomAD - Genomes | American | Sub | 13640 | G=0.76862 | A=0.23138 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | G=0.8709 | A=0.1291 |
| gnomAD - Genomes | East Asian | Sub | 3132 | G=0.9990 | A=0.0010 |
| gnomAD - Genomes | Other | Sub | 2148 | G=0.6909 | A=0.3091 |
| The PAGE Study | Global | Study-wide | 78688 | G=0.83788 | A=0.16212 |
| The PAGE Study | AfricanAmerican | Sub | 32510 | G=0.85334 | A=0.14666 |
| The PAGE Study | Mexican | Sub | 10810 | G=0.81452 | A=0.18548 |
| The PAGE Study | Asian | Sub | 8318 | G=0.9966 | A=0.0034 |
| The PAGE Study | PuertoRican | Sub | 7914 | G=0.7942 | A=0.2058 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | G=0.8397 | A=0.1603 |
| The PAGE Study | Cuban | Sub | 4228 | G=0.6755 | A=0.3245 |
| The PAGE Study | Dominican | Sub | 3828 | G=0.8009 | A=0.1991 |
| The PAGE Study | CentralAmerican | Sub | 2450 | G=0.8306 | A=0.1694 |
| The PAGE Study | SouthAmerican | Sub | 1980 | G=0.8126 | A=0.1874 |
| The PAGE Study | NativeAmerican | Sub | 1260 | G=0.5429 | A=0.4571 |
| The PAGE Study | SouthAsian | Sub | 856 | G=0.879 | A=0.121 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.8317 | A=0.1683 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.9754 | A=0.0246 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.4645 | A=0.5355 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.8894 | A=0.1106 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=1.0000 | A=0.0000 |
| 1000Genomes_30x | American | Sub | 980 | G=0.772 | A=0.228 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.8387 | A=0.1613 |
| 1000Genomes | African | Sub | 1322 | G=0.9728 | A=0.0272 |
| 1000Genomes | East Asian | Sub | 1008 | G=1.0000 | A=0.0000 |
| 1000Genomes | Europe | Sub | 1006 | G=0.4920 | A=0.5080 |
| 1000Genomes | South Asian | Sub | 978 | G=0.887 | A=0.113 |
| 1000Genomes | American | Sub | 694 | G=0.784 | A=0.216 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.5089 | A=0.4911 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1136 | G=0.8275 | A=0.1725 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | G=0.818 | A=0.182 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | G=0.944 | A=0.056 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | G=0.885 | A=0.115 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | G=0.463 | A=0.537 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | G=0.98 | A=0.02 |
| 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=0.281 | A=0.719 |
| HapMap | Global | Study-wide | 982 | G=0.741 | A=0.259 |
| HapMap | American | Sub | 600 | G=0.607 | A=0.393 |
| HapMap | Europe | Sub | 176 | G=0.898 | A=0.102 |
| HapMap | African | Sub | 116 | G=1.000 | A=0.000 |
| HapMap | Asian | Sub | 90 | G=1.00 | A=0.00 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | G=0.997 | A=0.003 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | G=0.997 | A=0.003 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.252 | A=0.748 |
| Qatari | Global | Study-wide | 216 | G=0.972 | A=0.028 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 92 | G=1.00 | A=0.00 |
| SGDP_PRJ | Global | Study-wide | 82 | G=0.35 | A=0.65 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.28 | A=0.72 |
| Siberian | Global | Study-wide | 16 | G=0.25 | A=0.75 |
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 2 | NC_000002.12:g.135851076G>A |
| GRCh38.p14 chr 2 | NC_000002.12:g.135851076G>C |
| GRCh38.p14 chr 2 | NC_000002.12:g.135851076G>T |
| GRCh37.p13 chr 2 | NC_000002.11:g.136608646G>A |
| GRCh37.p13 chr 2 | NC_000002.11:g.136608646G>C |
| GRCh37.p13 chr 2 | NC_000002.11:g.136608646G>T |
| LCT RefSeqGene (LRG_338) | NG_008104.2:g.9094C>T |
| LCT RefSeqGene (LRG_338) | NG_008104.2:g.9094C>G |
| LCT RefSeqGene (LRG_338) | NG_008104.2:g.9094C>A |
| MCM6 RefSeqGene | NG_008958.1:g.30366C>T |
| MCM6 RefSeqGene | NG_008958.1:g.30366C>G |
| MCM6 RefSeqGene | NG_008958.1:g.30366C>A |
Gene: MCM6, minichromosome maintenance complex component 6
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| MCM6 transcript | NM_005915.6:c.1917+326C>T | N/A | Intron 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:
22724
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000008124.7 | Lactase persistence | Association |
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 | C | T |
|---|---|---|---|---|
| GRCh38.p14 chr 2 | NC_000002.12:g.135851076= | NC_000002.12:g.135851076G>A | NC_000002.12:g.135851076G>C | NC_000002.12:g.135851076G>T |
| GRCh37.p13 chr 2 | NC_000002.11:g.136608646= | NC_000002.11:g.136608646G>A | NC_000002.11:g.136608646G>C | NC_000002.11:g.136608646G>T |
| LCT RefSeqGene (LRG_338) | NG_008104.2:g.9094= | NG_008104.2:g.9094C>T | NG_008104.2:g.9094C>G | NG_008104.2:g.9094C>A |
| MCM6 RefSeqGene | NG_008958.1:g.30366= | NG_008958.1:g.30366C>T | NG_008958.1:g.30366C>G | NG_008958.1:g.30366C>A |
| MCM6 transcript | NM_005915.5:c.1917+326= | NM_005915.5:c.1917+326C>T | NM_005915.5:c.1917+326C>G | NM_005915.5:c.1917+326C>A |
| MCM6 transcript | NM_005915.6:c.1917+326= | NM_005915.6:c.1917+326C>T | NM_005915.6:c.1917+326C>G | NM_005915.6:c.1917+326C>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#.
104 SubSNP,
21 Frequency,
1 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | EGP_SNPS | ss6905277 | Mar 31, 2003 (113) |
| 2 | SSAHASNP | ss21718943 | Apr 05, 2004 (121) |
| 3 | ABI | ss41791584 | Mar 13, 2006 (126) |
| 4 | DSWALLOW | ss66536930 | Nov 29, 2006 (127) |
| 5 | ILLUMINA | ss75046935 | Dec 07, 2007 (129) |
| 6 | HGSV | ss77533811 | Dec 07, 2007 (129) |
| 7 | HGSV | ss78390960 | Dec 07, 2007 (129) |
| 8 | BCMHGSC_JDW | ss91358492 | Mar 24, 2008 (129) |
| 9 | HUMANGENOME_JCVI | ss96429678 | Feb 04, 2009 (130) |
| 10 | SNP500CANCER | ss105437324 | Feb 04, 2009 (130) |
| 11 | 1000GENOMES | ss109911558 | Jan 24, 2009 (130) |
| 12 | KRIBB_YJKIM | ss119497200 | Dec 01, 2009 (131) |
| 13 | ENSEMBL | ss136140189 | Dec 01, 2009 (131) |
| 14 | ILLUMINA | ss160735894 | Dec 01, 2009 (131) |
| 15 | COMPLETE_GENOMICS | ss165275741 | Jul 04, 2010 (132) |
| 16 | COMPLETE_GENOMICS | ss167206869 | Jul 04, 2010 (132) |
| 17 | ILLUMINA | ss173903967 | Jul 04, 2010 (132) |
| 18 | BCM-HGSC-SUB | ss205615294 | Jul 04, 2010 (132) |
| 19 | 1000GENOMES | ss231373888 | Jul 14, 2010 (132) |
| 20 | BL | ss253507113 | May 09, 2011 (134) |
| 21 | GMI | ss284442913 | Apr 25, 2013 (138) |
| 22 | PJP | ss292373850 | May 09, 2011 (134) |
| 23 | ILLUMINA | ss410938247 | Sep 17, 2011 (135) |
| 24 | ILLUMINA | ss481126268 | May 04, 2012 (137) |
| 25 | ILLUMINA | ss481148421 | May 04, 2012 (137) |
| 26 | ILLUMINA | ss482137356 | Sep 08, 2015 (146) |
| 27 | ILLUMINA | ss485358206 | May 04, 2012 (137) |
| 28 | ILLUMINA | ss537302999 | Sep 08, 2015 (146) |
| 29 | ILLUMINA | ss778555721 | Sep 08, 2015 (146) |
| 30 | ILLUMINA | ss783124812 | Aug 21, 2014 (142) |
| 31 | ILLUMINA | ss784081462 | Sep 08, 2015 (146) |
| 32 | ILLUMINA | ss832383636 | Apr 01, 2015 (144) |
| 33 | ILLUMINA | ss834012514 | Sep 08, 2015 (146) |
| 34 | EVA-GONL | ss977391047 | Aug 21, 2014 (142) |
| 35 | JMKIDD_LAB | ss1069520152 | Aug 21, 2014 (142) |
| 36 | 1000GENOMES | ss1299460862 | Aug 21, 2014 (142) |
| 37 | HAMMER_LAB | ss1397305328 | Sep 08, 2015 (146) |
| 38 | DDI | ss1428750137 | Apr 01, 2015 (144) |
| 39 | OMIM-CURATED-RECORDS | ss1505810855 | Dec 08, 2014 (142) |
| 40 | EVA_GENOME_DK | ss1579099368 | Apr 01, 2015 (144) |
| 41 | EVA_DECODE | ss1586819657 | Apr 01, 2015 (144) |
| 42 | EVA_UK10K_ALSPAC | ss1604632304 | Apr 01, 2015 (144) |
| 43 | EVA_UK10K_ALSPAC | ss1604632305 | Apr 01, 2015 (144) |
| 44 | EVA_UK10K_TWINSUK | ss1647626337 | Apr 01, 2015 (144) |
| 45 | EVA_UK10K_TWINSUK | ss1647626338 | Apr 01, 2015 (144) |
| 46 | EVA_SVP | ss1712492313 | Apr 01, 2015 (144) |
| 47 | ILLUMINA | ss1752312553 | Sep 08, 2015 (146) |
| 48 | WEILL_CORNELL_DGM | ss1920650265 | Feb 12, 2016 (147) |
| 49 | ILLUMINA | ss1958461414 | Feb 12, 2016 (147) |
| 50 | GENOMED | ss1968896143 | Jul 19, 2016 (147) |
| 51 | JJLAB | ss2020848212 | Sep 14, 2016 (149) |
| 52 | ILLUMINA | ss2094807482 | Dec 20, 2016 (150) |
| 53 | ILLUMINA | ss2095101017 | Dec 20, 2016 (150) |
| 54 | USC_VALOUEV | ss2148915016 | Dec 20, 2016 (150) |
| 55 | HUMAN_LONGEVITY | ss2234547850 | Dec 20, 2016 (150) |
| 56 | ILLUMINA | ss2633676742 | Nov 08, 2017 (151) |
| 57 | ILLUMINA | ss2710912514 | Nov 08, 2017 (151) |
| 58 | GNOMAD | ss2780042566 | Nov 08, 2017 (151) |
| 59 | SWEGEN | ss2990481553 | Nov 08, 2017 (151) |
| 60 | ILLUMINA | ss3022020033 | Nov 08, 2017 (151) |
| 61 | BIOINF_KMB_FNS_UNIBA | ss3024187558 | Nov 08, 2017 (151) |
| 62 | CSHL | ss3344495711 | Nov 08, 2017 (151) |
| 63 | ILLUMINA | ss3625766164 | Oct 11, 2018 (152) |
| 64 | ILLUMINA | ss3628172558 | Oct 11, 2018 (152) |
| 65 | ILLUMINA | ss3631640190 | Oct 11, 2018 (152) |
| 66 | ILLUMINA | ss3633217359 | Oct 11, 2018 (152) |
| 67 | ILLUMINA | ss3633929867 | Oct 11, 2018 (152) |
| 68 | ILLUMINA | ss3634788851 | Oct 11, 2018 (152) |
| 69 | ILLUMINA | ss3635615714 | Oct 11, 2018 (152) |
| 70 | ILLUMINA | ss3636477655 | Oct 11, 2018 (152) |
| 71 | ILLUMINA | ss3637367658 | Oct 11, 2018 (152) |
| 72 | ILLUMINA | ss3638289356 | Oct 11, 2018 (152) |
| 73 | ILLUMINA | ss3640496150 | Oct 11, 2018 (152) |
| 74 | ILLUMINA | ss3643256169 | Oct 11, 2018 (152) |
| 75 | URBANLAB | ss3647151363 | Oct 11, 2018 (152) |
| 76 | ILLUMINA | ss3652460692 | Oct 11, 2018 (152) |
| 77 | ILLUMINA | ss3652460693 | Oct 11, 2018 (152) |
| 78 | EGCUT_WGS | ss3658324849 | Jul 13, 2019 (153) |
| 79 | EVA_DECODE | ss3704954997 | Jul 13, 2019 (153) |
| 80 | ILLUMINA | ss3725826699 | Jul 13, 2019 (153) |
| 81 | ACPOP | ss3728895000 | Jul 13, 2019 (153) |
| 82 | ILLUMINA | ss3744480835 | Jul 13, 2019 (153) |
| 83 | ILLUMINA | ss3745088704 | Jul 13, 2019 (153) |
| 84 | EVA | ss3757422435 | Jul 13, 2019 (153) |
| 85 | PAGE_CC | ss3770950711 | Jul 13, 2019 (153) |
| 86 | ILLUMINA | ss3772585379 | Jul 13, 2019 (153) |
| 87 | KHV_HUMAN_GENOMES | ss3801789303 | Jul 13, 2019 (153) |
| 88 | EVA | ss3827236759 | Apr 25, 2020 (154) |
| 89 | EVA | ss3837032809 | Apr 25, 2020 (154) |
| 90 | EVA | ss3842451439 | Apr 25, 2020 (154) |
| 91 | SGDP_PRJ | ss3853484061 | Apr 25, 2020 (154) |
| 92 | EVA | ss3984490123 | Apr 26, 2021 (155) |
| 93 | EVA | ss3984923669 | Apr 26, 2021 (155) |
| 94 | TOPMED | ss4525091414 | Apr 26, 2021 (155) |
| 95 | 1000G_HIGH_COVERAGE | ss5250132797 | Oct 12, 2022 (156) |
| 96 | EVA | ss5332552480 | Oct 12, 2022 (156) |
| 97 | HUGCELL_USP | ss5449932701 | Oct 12, 2022 (156) |
| 98 | 1000G_HIGH_COVERAGE | ss5526461060 | Oct 12, 2022 (156) |
| 99 | SANFORD_IMAGENETICS | ss5624458241 | Oct 12, 2022 (156) |
| 100 | SANFORD_IMAGENETICS | ss5629875140 | Oct 12, 2022 (156) |
| 101 | EVA | ss5799546152 | Oct 12, 2022 (156) |
| 102 | EVA | ss5820850951 | Oct 12, 2022 (156) |
| 103 | EVA | ss5932504291 | Oct 12, 2022 (156) |
| 104 | EVA | ss5956076266 | Oct 12, 2022 (156) |
| 105 | 1000Genomes | NC_000002.11 - 136608646 | Oct 11, 2018 (152) |
| 106 | 1000Genomes_30x | NC_000002.12 - 135851076 | Oct 12, 2022 (156) |
| 107 |
The Avon Longitudinal Study of Parents and Children
Submission ignored due to conflicting rows: |
- | Oct 11, 2018 (152) |
| 108 |
The Avon Longitudinal Study of Parents and Children
Submission ignored due to conflicting rows: |
- | Oct 11, 2018 (152) |
| 109 | Genome-wide autozygosity in Daghestan | NC_000002.10 - 136325116 | Apr 25, 2020 (154) |
| 110 | Genetic variation in the Estonian population | NC_000002.11 - 136608646 | Oct 11, 2018 (152) |
| 111 | The Danish reference pan genome | NC_000002.11 - 136608646 | Apr 25, 2020 (154) |
| 112 | gnomAD - Genomes | NC_000002.12 - 135851076 | Apr 26, 2021 (155) |
| 113 | Genome of the Netherlands Release 5 | NC_000002.11 - 136608646 | Apr 25, 2020 (154) |
| 114 | HapMap | NC_000002.12 - 135851076 | Apr 25, 2020 (154) |
| 115 | Northern Sweden | NC_000002.11 - 136608646 | Jul 13, 2019 (153) |
| 116 | The PAGE Study | NC_000002.12 - 135851076 | Jul 13, 2019 (153) |
| 117 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000002.11 - 136608646 | Apr 26, 2021 (155) |
| 118 | CNV burdens in cranial meningiomas | NC_000002.11 - 136608646 | Apr 26, 2021 (155) |
| 119 | Qatari | NC_000002.11 - 136608646 | Apr 25, 2020 (154) |
| 120 | SGDP_PRJ | NC_000002.11 - 136608646 | Apr 25, 2020 (154) |
| 121 | Siberian | NC_000002.11 - 136608646 | Apr 25, 2020 (154) |
| 122 | TopMed | NC_000002.12 - 135851076 | Apr 26, 2021 (155) |
| 123 |
UK 10K study - Twins
Submission ignored due to conflicting rows: |
- | Oct 11, 2018 (152) |
| 124 |
UK 10K study - Twins
Submission ignored due to conflicting rows: |
- | Oct 11, 2018 (152) |
| 125 | ALFA | NC_000002.12 - 135851076 | Apr 26, 2021 (155) |
| 126 | ClinVar | RCV000008124.7 | Oct 12, 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).
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss77533811, ss78390960 | NC_000002.9:136442377:G:A | NC_000002.12:135851075:G:A | (self) |
| 255287, ss91358492, ss109911558, ss165275741, ss167206869, ss205615294, ss253507113, ss284442913, ss292373850, ss410938247, ss481126268, ss1397305328, ss1586819657, ss1712492313, ss3643256169 | NC_000002.10:136325115:G:A | NC_000002.12:135851075:G:A | (self) |
| 10481483, 4063097, 5264307, 2536885, 2179865, 149596, 39457, 2692195, 5501041, 1431370, ss231373888, ss481148421, ss482137356, ss485358206, ss537302999, ss778555721, ss783124812, ss784081462, ss832383636, ss834012514, ss977391047, ss1069520152, ss1299460862, ss1428750137, ss1579099368, ss1604632304, ss1647626337, ss1752312553, ss1920650265, ss1958461414, ss1968896143, ss2020848212, ss2094807482, ss2095101017, ss2148915016, ss2633676742, ss2710912514, ss2780042566, ss2990481553, ss3022020033, ss3344495711, ss3625766164, ss3628172558, ss3631640190, ss3633217359, ss3633929867, ss3634788851, ss3635615714, ss3636477655, ss3637367658, ss3638289356, ss3640496150, ss3652460692, ss3652460693, ss3658324849, ss3728895000, ss3744480835, ss3745088704, ss3757422435, ss3772585379, ss3827236759, ss3837032809, ss3853484061, ss3984490123, ss3984923669, ss5332552480, ss5624458241, ss5629875140, ss5799546152, ss5820850951, ss5956076266 | NC_000002.11:136608645:G:A | NC_000002.12:135851075:G:A | (self) |
| RCV000008124.7, 13986995, 74730441, 1899818, 172180, 328914293, 6471362879, ss1505810855, ss2234547850, ss3024187558, ss3647151363, ss3704954997, ss3725826699, ss3770950711, ss3801789303, ss3842451439, ss4525091414, ss5250132797, ss5449932701, ss5526461060, ss5932504291 | NC_000002.12:135851075:G:A | NC_000002.12:135851075:G:A | (self) |
| ss21718943 | NT_005058.14:5217654:G:A | NC_000002.12:135851075:G:A | (self) |
| ss6905277, ss41791584, ss66536930, ss75046935, ss96429678, ss105437324, ss119497200, ss136140189, ss160735894, ss173903967 | NT_022135.16:26357308:G:A | NC_000002.12:135851075:G:A | (self) |
| ss1604632305, ss1647626338 | NC_000002.11:136608645:G:C | NC_000002.12:135851075:G:C | (self) |
| 6471362879 | NC_000002.12:135851075:G:T | NC_000002.12:135851075:G:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
98
citations for rs4988235
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 11788828 | Identification of a variant associated with adult-type hypolactasia. | Enattah NS et al. | 2002 | Nature genetics |
| 12915462 | Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element. | Olds LC et al. | 2003 | Human molecular genetics |
| 15106124 | The T allele of a single-nucleotide polymorphism 13.9 kb upstream of the lactase gene (LCT) (C-13.9kbT) does not predict or cause the lactase-persistence phenotype in Africans. | Mulcare CA et al. | 2004 | American journal of human genetics |
| 15114531 | Genetic signatures of strong recent positive selection at the lactase gene. | Bersaglieri T et al. | 2004 | American journal of human genetics |
| 16041375 | Demonstrating stratification in a European American population. | Campbell CD et al. | 2005 | Nature genetics |
| 17436249 | Measuring European population stratification with microarray genotype data. | Bauchet M et al. | 2007 | American journal of human genetics |
| 18021008 | Association of bone morphogenetic proteins with otosclerosis. | Schrauwen I et al. | 2008 | Journal of bone and mineral research |
| 18194137 | Adult-type hypolactasia is not a predisposing factor for the early functional and structural changes of atherosclerosis: the Cardiovascular Risk in Young Finns Study. | Lehtimäki T et al. | 2008 | Clinical science (London, England |
| 18462498 | Genetic polymorphisms in PTPN22, PADI-4, and CTLA-4 and risk for rheumatoid arthritis in two longitudinal cohort studies: evidence of gene-environment interactions with heavy cigarette smoking. | Costenbader KH et al. | 2008 | Arthritis research & therapy |
| 18602983 | Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1. | Bento JL et al. | 2008 | Genomics |
| 18605960 | Genetic testing for adult-type hypolactasia in Italian families. | Mottes M et al. | 2008 | Clinical chemistry and laboratory medicine |
| 18797476 | Lactase persistence-related genetic variant: population substructure and health outcomes. | Smith GD et al. | 2009 | European journal of human genetics |
| 18974842 | Gender differences in genetic risk profiles for cardiovascular disease. | Silander K et al. | 2008 | PloS one |
| 19138442 | Genetic lactase non-persistence, consumption of milk products and intakes of milk nutrients in Finns from childhood to young adulthood. | Laaksonen MM et al. | 2009 | The British journal of nutrition |
| 19265028 | Geographical structure and differential natural selection among North European populations. | McEvoy BP et al. | 2009 | Genome research |
| 19326473 | Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting. | Fox AA et al. | 2009 | Anesthesiology |
| 19687126 | A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women. | Zuccolo L et al. | 2009 | Human molecular genetics |
| 19912639 | HLA-E gene polymorphism associates with ankylosing spondylitis in Sardinia. | Paladini F et al. | 2009 | Arthritis research & therapy |
| 19943975 | Polymorphism in the oxytocin promoter region in patients with lactase non-persistence is not related to symptoms. | Truedsson M et al. | 2009 | BMC gastroenterology |
| 20015952 | European lactase persistence genotype shows evidence of association with increase in body mass index. | Kettunen J et al. | 2010 | Human molecular genetics |
| 20031626 | Variation in the 4q25 chromosomal locus predicts atrial fibrillation after coronary artery bypass graft surgery. | Body SC et al. | 2009 | Circulation. Cardiovascular genetics |
| 20097913 | Correcting population stratification in genetic association studies using a phylogenetic approach. | Li M et al. | 2010 | Bioinformatics (Oxford, England) |
| 20109229 | Haplotype allelic classes for detecting ongoing positive selection. | Hussin J et al. | 2010 | BMC bioinformatics |
| 20225268 | The T-13910C polymorphism in the lactase phlorizin hydrolase gene is associated with differences in serum calcium levels and calcium intake. | Koek WN et al. | 2010 | Journal of bone and mineral research |
| 20447925 | Can lactase persistence genotype be used to reassess the relationship between renal cell carcinoma and milk drinking? Potentials and problems in the application of Mendelian randomization. | Timpson NJ et al. | 2010 | Cancer epidemiology, biomarkers & prevention |
| 20616999 | Usefulness of Mendelian randomization in observational epidemiology. | Bochud M et al. | 2010 | International journal of environmental research and public health |
| 20650817 | Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes. | Cooper DN et al. | 2010 | Human genomics |
| 21152447 | Adult-type hypolactasia and lactose malabsorption in Poland. | Mądry E et al. | 2010 | Acta biochimica Polonica |
| 21193851 | Association of the LCT-13910C>T polymorphism with obesity and its modulation by dairy products in a Mediterranean population. | Corella D et al. | 2011 | Obesity (Silver Spring, Md.) |
| 21212231 | A hierarchical Bayesian model for next-generation population genomics. | Gompert Z et al. | 2011 | Genetics |
| 21235777 | Lactase persistence genotypes and malaria susceptibility in Fulani of Mali. | Lokki AI et al. | 2011 | Malaria journal |
| 21931699 | Genetic risk score predicting risk of rheumatoid arthritis phenotypes and age of symptom onset. | Chibnik LB et al. | 2011 | PloS one |
| 22043165 | Genetics of Obesity: What have we Learned? | Choquet H et al. | 2011 | Current genomics |
| 22194982 | Association of systemic lupus erythematosus clinical features with European population genetic substructure. | Alonso-Perez E et al. | 2011 | PloS one |
| 22228373 | Polymorphism in the protease-activated receptor-4 gene region associates with platelet activation and perioperative myocardial injury. | Muehlschlegel JD et al. | 2012 | American journal of hematology |
| 22332091 | Recent advances in understanding the role of nutrition in human genome evolution. | Ye K et al. | 2011 | Advances in nutrition (Bethesda, Md.) |
| 22541939 | Bias in effect size of systemic lupus erythematosus susceptibility loci across Europe: a case-control study. | Alonso-Perez E et al. | 2012 | Arthritis research & therapy |
| 22590501 | European American stratification in ovarian cancer case control data: the utility of genome-wide data for inferring ancestry. | Raska P et al. | 2012 | PloS one |
| 22742424 | Lactase persistence, NOD2 status and Mycobacterium avium subsp. paratuberculosis infection associations to Inflammatory Bowel Disease. | Elguezabal N et al. | 2012 | Gut pathogens |
| 22948027 | Stronger signal of recent selection for lactase persistence in Maasai than in Europeans. | Schlebusch CM et al. | 2013 | European journal of human genetics |
| 22965418 | Genetic variation in the lactase gene, dairy product intake and risk for prostate cancer in the European prospective investigation into cancer and nutrition. | Travis RC et al. | 2013 | International journal of cancer |
| 23028602 | Lactase persistence and lipid pathway selection in the Maasai. | Wagh K et al. | 2012 | PloS one |
| 23029545 | Several different lactase persistence associated alleles and high diversity of the lactase gene in the admixed Brazilian population. | Friedrich DC et al. | 2012 | PloS one |
| 23049788 | Further evidence of subphenotype association with systemic lupus erythematosus susceptibility loci: a European cases only study. | Alonso-Perez E et al. | 2012 | PloS one |
| 23166662 | Fetal alcohol exposure and IQ at age 8: evidence from a population-based birth-cohort study. | Lewis SJ et al. | 2012 | PloS one |
| 23479116 | Associations of the lactase persistence allele and lactose intake with body composition among multiethnic children. | Malek AJ et al. | 2013 | Genes & nutrition |
| 23647908 | The lactase persistence genotype is associated with body mass index and dairy consumption in the D.E.S.I.R. study. | Lamri A et al. | 2013 | Metabolism |
| 24392269 | Gene-Lifestyle Interactions in Obesity. | van Vliet-Ostaptchouk JV et al. | 2012 | Current nutrition reports |
| 26156736 | Milk intake is not associated with low risk of diabetes or overweight-obesity: a Mendelian randomization study in 97,811 Danish individuals. | Bergholdt HK et al. | 2015 | The American journal of clinical nutrition |
| 26345458 | Lactase non-persistence and general patterns of dairy intake in indigenous and mestizo chilean populations. | Fernández CI et al. | 2016 | American journal of human biology |
| 26444257 | Genetic diversity of variants involved in drug response and metabolism in Sri Lankan populations: implications for clinical implementation of pharmacogenomics. | Chan SL et al. | 2016 | Pharmacogenetics and genomics |
| 26595274 | Genome-wide patterns of selection in 230 ancient Eurasians. | Mathieson I et al. | 2015 | Nature |
| 26728963 | Genetic diversity of lactase persistence in East African populations. | Hassan HY et al. | 2016 | BMC research notes |
| 26741362 | Association with Spontaneous Hepatitis C Viral Clearance and Genetic Differentiation of IL28B/IFNL4 Haplotypes in Populations from Mexico. | Gonzalez-Aldaco K et al. | 2016 | PloS one |
| 26748513 | Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes. | Deschamps M et al. | 2016 | American journal of human genetics |
| 26753840 | Ancient DNA and the rewriting of human history: be sparing with Occam's razor. | Haber M et al. | 2016 | Genome biology |
| 26924531 | Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia. | Galinsky KJ et al. | 2016 | American journal of human genetics |
| 26988143 | Human adaptation and population differentiation in the light of ancient genomes. | Key FM et al. | 2016 | Nature communications |
| 27135931 | The genetic history of Ice Age Europe. | Fu Q et al. | 2016 | Nature |
| 27170764 | Association of lactase persistence genotype with milk consumption, obesity and blood pressure: a Mendelian randomization study in the 1982 Pelotas (Brazil) Birth Cohort, with a systematic review and meta-analysis. | Hartwig FP et al. | 2016 | International journal of epidemiology |
| 27274049 | Early farmers from across Europe directly descended from Neolithic Aegeans. | Hofmanová Z et al. | 2016 | Proceedings of the National Academy of Sciences of the United States of America |
| 27502179 | The genetics of an early Neolithic pastoralist from the Zagros, Iran. | Gallego-Llorente M et al. | 2016 | Scientific reports |
| 27577176 | The lactase -13910C>T polymorphism (rs4988235) is associated with overweight/obesity and obesity-related variables in a population sample of Portuguese young adults. | Manco L et al. | 2017 | European journal of clinical nutrition |
| 27624874 | Associations of the MCM6-rs3754686 proxy for milk intake in Mediterranean and American populations with cardiovascular biomarkers, disease and mortality: Mendelian randomization. | Smith CE et al. | 2016 | Scientific reports |
| 27714771 | In Vitro Functional Analyses of Infrequent Nucleotide Variants in the Lactase Enhancer Reveal Different Molecular Routes to Increased Lactase Promoter Activity and Lactase Persistence. | Liebert A et al. | 2016 | Annals of human genetics |
| 28225053 | Genetically predicted milk consumption and bone health, ischemic heart disease and type 2 diabetes: a Mendelian randomization study. | Yang Q et al. | 2017 | European journal of clinical nutrition |
| 28302601 | Dairy consumption, systolic blood pressure, and risk of hypertension: Mendelian randomization study. | Ding M et al. | 2017 | BMJ (Clinical research ed.) |
| 28424184 | Demographic, lifestyle, and genetic determinants of circulating concentrations of 25-hydroxyvitamin D and vitamin D-binding protein in African American and European American women. | Yao S et al. | 2017 | The American journal of clinical nutrition |
| 28497837 | Frequency of adult type-associated lactase persistence LCT-13910C/T genotypes in the Czech/Slav and Czech Roma/Gypsy populations. | Hubácek JA et al. | 2017 | Genetics and molecular biology |
| 29063188 | World-wide distributions of lactase persistence alleles and the complex effects of recombination and selection. | Liebert A et al. | 2017 | Human genetics |
| 29071499 | Lactase persistence, milk intake, and mortality in the Danish general population: a Mendelian randomization study. | Bergholdt HKM et al. | 2018 | European journal of epidemiology |
| 29125573 | Tailoring Nutritional Advice for Mexicans Based on Prevalence Profiles of Diet-Related Adaptive Gene Polymorphisms. | Ojeda-Granados C et al. | 2017 | Journal of personalized medicine |
| 29537719 | Lactase persistence, milk intake, hip fracture and bone mineral density: a study of 97 811 Danish individuals and a meta-analysis. | Bergholdt HKM et al. | 2018 | Journal of internal medicine |
| 29568104 | Gut-microbiome-related LCT genotype and 2-year changes in body composition and fat distribution: the POUNDS Lost Trial. | Heianza Y et al. | 2018 | International journal of obesity (2005) |
| 30096803 | Lactase Persistence, Milk Intake, and Adult Acne: A Mendelian Randomization Study of 20,416 Danish Adults. | Juhl CR et al. | 2018 | Nutrients |
| 30339693 | Association between functional lactase variants and a high abundance of Bifidobacterium in the gut of healthy Japanese people. | Kato K et al. | 2018 | PloS one |
| 30689919 | Maternal Lactase Polymorphism (rs4988235) Is Associated with Neural Tube Defects in Offspring in the National Birth Defects Prevention Study. | Hoang TT et al. | 2019 | The Journal of nutrition |
| 30721917 | Assessment of lactase activity in humans by measurement of galactitol and galactonate in serum and urine after milk intake. | Vionnet N et al. | 2019 | The American journal of clinical nutrition |
| 30728219 | Dairy Product Intake and Risk of Type 2 Diabetes in EPIC-InterAct: A Mendelian Randomization Study. | Vissers LET et al. | 2019 | Diabetes care |
| 31138550 | Dairy Intake and Body Composition and Cardiometabolic Traits among Adults: Mendelian Randomization Analysis of 182041 Individuals from 18 Studies. | 2019 | Clinical chemistry | |
| 31352438 | Genetic and Oral Tests for the Diagnosis of Lactose Intolerance in Mixed-Ancestry Brazilians with Metabolic Syndrome. | Araujo EM et al. | 2019 | Lifestyle genomics |
| 31405126 | Association of Lactase Persistence Genotypes (rs4988235) and Ethnicity with Dairy Intake in a Healthy U.S. Population. | Chin EL et al. | 2019 | Nutrients |
| 31483113 | GutSelf: Interindividual Variability in the Processing of Dietary Compounds by the Human Gastrointestinal Tract. | Walther B et al. | 2019 | Molecular nutrition & food research |
| 32572223 | Genome-wide associations of human gut microbiome variation and implications for causal inference analyses. | Hughes DA et al. | 2020 | Nature microbiology |
| 32659776 | Lack of Association between LCT_rs140433552*CA>del Indel Polymorphism and Lactose Intolerance in a Southern Brazilian Population. | Oliveira LC et al. | 2020 | Lifestyle genomics |
| 32888485 | Low Prevalence of Lactase Persistence in Bronze Age Europe Indicates Ongoing Strong Selection over the Last 3,000 Years. | Burger J et al. | 2020 | Current biology |
| 33170161 | Genetic test for the prescription of diets in support of physical activity. | Naureen Z et al. | 2020 | Acta bio-medica |
| 33208821 | Genome-wide association studies and heritability analysis reveal the involvement of host genetics in the Japanese gut microbiota. | Ishida S et al. | 2020 | Communications biology |
| 33261611 | Genetically proxied milk consumption and risk of colorectal, bladder, breast, and prostate cancer: a two-sample Mendelian randomization study. | Larsson SC et al. | 2020 | BMC medicine |
| 33577048 | The lactase rs4988235 is associated with obesity related variables and diabetes mellitus in menopausal obese females. | de Luis DA et al. | 2021 | European review for medical and pharmacological sciences |
| 33763108 | Whole Genome Interpretation for a Family of Five. | Corpas M et al. | 2021 | Frontiers in genetics |
| 33920682 | Ileal Lactase Expression Associates with Lactase Persistence Genotypes. | Nowak JK et al. | 2021 | Nutrients |
| 34024907 | Evidence for a causal association between milk intake and cardiometabolic disease outcomes using a two-sample Mendelian Randomization analysis in up to 1,904,220 individuals. | Vimaleswaran KS et al. | 2021 | International journal of obesity (2005) |
| 34445060 | Genetically Predicted Milk Intake and Risk of Neurodegenerative Diseases. | Zhang Z et al. | 2021 | Nutrients |
| 34630506 | Tracing the Distribution of European Lactase Persistence Genotypes Along the Americas. | Guimarães Alves AC et al. | 2021 | Frontiers in genetics |
| 34901125 | Dairy Consumption, Lactase Persistence, and Mortality Risk in a Cohort From Southern Sweden. | Sonestedt E et al. | 2021 | Frontiers in nutrition |
| 34978666 | Association of milk intake with hay fever, asthma, and lung function: a Mendelian randomization analysis. | Skaaby T et al. | 2022 | European journal of epidemiology |
| 34997937 | Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study. | Domenighetti C et al. | 2022 | Movement disorders |
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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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.