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.
rs1805007
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr16:89919709 (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
- C>A / C>G / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.043428 (11495/264690, TOPMED)T=0.044158 (10719/242744, GnomAD_exome)T=0.048322 (6779/140288, GnomAD) (+ 25 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- MC1R : Missense Variant
- Publications
- 58 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 | 128282 | C=0.934200 | T=0.065800 |
| European | Sub | 103990 | C=0.926531 | T=0.073469 |
| African | Sub | 6198 | C=0.9845 | T=0.0155 |
| African Others | Sub | 180 | C=1.000 | T=0.000 |
| African American | Sub | 6018 | C=0.9840 | T=0.0160 |
| Asian | Sub | 3258 | C=0.9985 | T=0.0015 |
| East Asian | Sub | 1980 | C=0.9990 | T=0.0010 |
| Other Asian | Sub | 1278 | C=0.9977 | T=0.0023 |
| Latin American 1 | Sub | 254 | C=0.976 | T=0.024 |
| Latin American 2 | Sub | 918 | C=0.990 | T=0.010 |
| South Asian | Sub | 134 | C=1.000 | T=0.000 |
| Other | Sub | 13530 | C=0.94937 | T=0.05063 |
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 | C=0.956572 | T=0.043428 |
| gnomAD - Exomes | Global | Study-wide | 242744 | C=0.955842 | T=0.044158 |
| gnomAD - Exomes | European | Sub | 127862 | C=0.928360 | T=0.071640 |
| gnomAD - Exomes | Asian | Sub | 48502 | C=0.99748 | T=0.00252 |
| gnomAD - Exomes | American | Sub | 34482 | C=0.99063 | T=0.00937 |
| gnomAD - Exomes | African | Sub | 15870 | C=0.98683 | T=0.01317 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10010 | C=0.93437 | T=0.06563 |
| gnomAD - Exomes | Other | Sub | 6018 | C=0.9588 | T=0.0412 |
| gnomAD - Genomes | Global | Study-wide | 140288 | C=0.951678 | T=0.048322 |
| gnomAD - Genomes | European | Sub | 75952 | C=0.92653 | T=0.07347 |
| gnomAD - Genomes | African | Sub | 42062 | C=0.98462 | T=0.01538 |
| gnomAD - Genomes | American | Sub | 13668 | C=0.98295 | T=0.01705 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | C=0.9247 | T=0.0753 |
| gnomAD - Genomes | East Asian | Sub | 3132 | C=0.9987 | T=0.0013 |
| gnomAD - Genomes | Other | Sub | 2152 | C=0.9698 | T=0.0302 |
| Allele Frequency Aggregator | Total | Global | 128070 | C=0.934169 | T=0.065831 |
| Allele Frequency Aggregator | European | Sub | 103812 | C=0.926502 | T=0.073498 |
| Allele Frequency Aggregator | Other | Sub | 13510 | C=0.94930 | T=0.05070 |
| Allele Frequency Aggregator | African | Sub | 6184 | C=0.9845 | T=0.0155 |
| Allele Frequency Aggregator | Asian | Sub | 3258 | C=0.9985 | T=0.0015 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 918 | C=0.990 | T=0.010 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 254 | C=0.976 | T=0.024 |
| Allele Frequency Aggregator | South Asian | Sub | 134 | C=1.000 | T=0.000 |
| ExAC | Global | Study-wide | 119912 | C=0.955117 | T=0.044883 |
| ExAC | Europe | Sub | 72554 | C=0.93034 | T=0.06966 |
| ExAC | Asian | Sub | 25034 | C=0.99688 | T=0.00312 |
| ExAC | American | Sub | 11522 | C=0.99210 | T=0.00790 |
| ExAC | African | Sub | 9914 | C=0.9859 | T=0.0141 |
| ExAC | Other | Sub | 888 | C=0.979 | T=0.021 |
| The PAGE Study | Global | Study-wide | 78696 | C=0.98441 | T=0.01559 |
| The PAGE Study | AfricanAmerican | Sub | 32512 | C=0.98170 | T=0.01830 |
| The PAGE Study | Mexican | Sub | 10810 | C=0.98899 | T=0.01101 |
| The PAGE Study | Asian | Sub | 8318 | C=0.9980 | T=0.0020 |
| The PAGE Study | PuertoRican | Sub | 7916 | C=0.9745 | T=0.0255 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | C=0.9835 | T=0.0165 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.9837 | T=0.0163 |
| The PAGE Study | Dominican | Sub | 3828 | C=0.9916 | T=0.0084 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.9902 | T=0.0098 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=0.9828 | T=0.0172 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.9556 | T=0.0444 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.995 | T=0.005 |
| 14KJPN | JAPANESE | Study-wide | 28252 | C=0.99922 | T=0.00078 |
| 8.3KJPN | JAPANESE | Study-wide | 16754 | C=0.99910 | T=0.00090 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.9813 | T=0.0187 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.9972 | T=0.0028 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.9273 | T=0.0727 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.9958 | T=0.0042 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.9991 | T=0.0009 |
| 1000Genomes_30x | American | Sub | 980 | C=0.983 | T=0.017 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.9814 | T=0.0186 |
| 1000Genomes | African | Sub | 1322 | C=0.9970 | T=0.0030 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.9990 | T=0.0010 |
| 1000Genomes | Europe | Sub | 1006 | C=0.9284 | T=0.0716 |
| 1000Genomes | South Asian | Sub | 978 | C=0.995 | T=0.005 |
| 1000Genomes | American | Sub | 694 | C=0.984 | T=0.016 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.9424 | T=0.0576 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.9100 | T=0.0900 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.9005 | T=0.0995 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | C=0.9983 | T=0.0017 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | C=0.9951 | T=0.0049 |
| HapMap | Global | Study-wide | 1050 | C=0.9648 | T=0.0352 |
| HapMap | American | Sub | 590 | C=0.947 | T=0.053 |
| HapMap | Europe | Sub | 176 | C=0.972 | T=0.028 |
| HapMap | Asian | Sub | 170 | C=0.994 | T=0.006 |
| HapMap | African | Sub | 114 | C=1.000 | T=0.000 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.941 | T=0.059 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | C=0.999 | T=0.001 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | C=0.999 | T=0.001 |
| Chileans | Chilean | Study-wide | 626 | C=0.974 | T=0.026 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.950 | T=0.050 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.989 | T=0.011 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | C=0.911 | T=0.089 |
| Qatari | Global | Study-wide | 216 | C=0.995 | T=0.005 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 112 | C=0.946 | T=0.054 |
| SGDP_PRJ | Global | Study-wide | 10 | C=0.5 | T=0.5 |
| Siberian | Global | Study-wide | 6 | C=0.5 | T=0.5 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 16 | NC_000016.10:g.89919709C>A |
| GRCh38.p14 chr 16 | NC_000016.10:g.89919709C>G |
| GRCh38.p14 chr 16 | NC_000016.10:g.89919709C>T |
| GRCh37.p13 chr 16 | NC_000016.9:g.89986117C>A |
| GRCh37.p13 chr 16 | NC_000016.9:g.89986117C>G |
| GRCh37.p13 chr 16 | NC_000016.9:g.89986117C>T |
| TUBB3 RefSeqGene | NG_027810.1:g.2701C>A |
| TUBB3 RefSeqGene | NG_027810.1:g.2701C>G |
| TUBB3 RefSeqGene | NG_027810.1:g.2701C>T |
| MC1R RefSeqGene | NG_012026.1:g.6831C>A |
| MC1R RefSeqGene | NG_012026.1:g.6831C>G |
| MC1R RefSeqGene | NG_012026.1:g.6831C>T |
Gene: MC1R, melanocortin 1 receptor
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| MC1R transcript | NM_002386.4:c.451C>A | R [CGC] > S [AGC] | Coding Sequence Variant |
| melanocyte-stimulating hormone receptor | NP_002377.4:p.Arg151Ser | R (Arg) > S (Ser) | Missense Variant |
| MC1R transcript | NM_002386.4:c.451C>G | R [CGC] > G [GGC] | Coding Sequence Variant |
| melanocyte-stimulating hormone receptor | NP_002377.4:p.Arg151Gly | R (Arg) > G (Gly) | Missense Variant |
| MC1R transcript | NM_002386.4:c.451C>T | R [CGC] > C [TGC] | Coding Sequence Variant |
| melanocyte-stimulating hormone receptor | NP_002377.4:p.Arg151Cys | R (Arg) > C (Cys) | 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: T (allele ID:
29351
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000015385.30 | Skin/hair/eye pigmentation 2, red hair/fair skin | Association |
| RCV000015386.25 | Increased analgesia from kappa-opioid receptor agonist, female-specific | Affects |
| RCV000015387.30 | OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF | Risk-Factor |
| RCV000242808.3 | not specified | Benign |
| RCV000255991.5 | not provided | Benign |
| RCV000472249.9 | Melanoma, cutaneous malignant, susceptibility to, 5 | 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 | C= | A | G | T |
|---|---|---|---|---|
| GRCh38.p14 chr 16 | NC_000016.10:g.89919709= | NC_000016.10:g.89919709C>A | NC_000016.10:g.89919709C>G | NC_000016.10:g.89919709C>T |
| GRCh37.p13 chr 16 | NC_000016.9:g.89986117= | NC_000016.9:g.89986117C>A | NC_000016.9:g.89986117C>G | NC_000016.9:g.89986117C>T |
| TUBB3 RefSeqGene | NG_027810.1:g.2701= | NG_027810.1:g.2701C>A | NG_027810.1:g.2701C>G | NG_027810.1:g.2701C>T |
| MC1R RefSeqGene | NG_012026.1:g.6831= | NG_012026.1:g.6831C>A | NG_012026.1:g.6831C>G | NG_012026.1:g.6831C>T |
| MC1R transcript | NM_002386.4:c.451= | NM_002386.4:c.451C>A | NM_002386.4:c.451C>G | NM_002386.4:c.451C>T |
| MC1R transcript | NM_002386.3:c.451= | NM_002386.3:c.451C>A | NM_002386.3:c.451C>G | NM_002386.3:c.451C>T |
| melanocyte-stimulating hormone receptor | NP_002377.4:p.Arg151= | NP_002377.4:p.Arg151Ser | NP_002377.4:p.Arg151Gly | NP_002377.4:p.Arg151Cys |
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#.
111 SubSNP,
26 Frequency,
6 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | HGBASE | ss2425920 | Nov 14, 2000 (89) |
| 2 | PGA-UW-FHCRC | ss4472756 | Jul 03, 2002 (110) |
| 3 | PERLEGEN | ss24695277 | Sep 20, 2004 (123) |
| 4 | ABI | ss40730574 | Mar 13, 2006 (126) |
| 5 | SNP500CANCER | ss48295620 | Mar 13, 2006 (126) |
| 6 | APPLERA_GI | ss48410325 | Mar 13, 2006 (126) |
| 7 | PERLEGEN | ss69355432 | May 17, 2007 (127) |
| 8 | ILLUMINA | ss74872101 | Dec 07, 2007 (129) |
| 9 | AFFY | ss76592246 | Dec 08, 2007 (130) |
| 10 | HUMANGENOME_JCVI | ss96709093 | Feb 04, 2009 (130) |
| 11 | KRIBB_YJKIM | ss104853767 | Feb 04, 2009 (130) |
| 12 | ILLUMINA | ss120037034 | Dec 01, 2009 (131) |
| 13 | COMPLETE_GENOMICS | ss168672682 | Jul 04, 2010 (132) |
| 14 | COMPLETE_GENOMICS | ss171740728 | Jul 04, 2010 (132) |
| 15 | ILLUMINA | ss172926359 | Jul 04, 2010 (132) |
| 16 | 1000GENOMES | ss237150929 | Jul 15, 2010 (132) |
| 17 | OMICIA | ss244239409 | May 27, 2010 (132) |
| 18 | ILLUMINA | ss244267385 | Jul 04, 2010 (132) |
| 19 | BL | ss255886932 | May 09, 2011 (134) |
| 20 | OMIM-CURATED-RECORDS | ss275515488 | Nov 24, 2010 (133) |
| 21 | ILLUMINA | ss410916088 | Sep 17, 2011 (135) |
| 22 | ILLUMINA | ss483589379 | May 04, 2012 (137) |
| 23 | ILLUMINA | ss484262558 | May 04, 2012 (137) |
| 24 | EXOME_CHIP | ss491513800 | May 04, 2012 (137) |
| 25 | CLINSEQ_SNP | ss491725590 | May 04, 2012 (137) |
| 26 | ILLUMINA | ss536447756 | Sep 08, 2015 (146) |
| 27 | NHLBI-ESP | ss713340312 | Apr 25, 2013 (138) |
| 28 | ILLUMINA | ss779530072 | Sep 08, 2015 (146) |
| 29 | ILLUMINA | ss780722556 | Sep 08, 2015 (146) |
| 30 | ILLUMINA | ss782577305 | Sep 08, 2015 (146) |
| 31 | ILLUMINA | ss783398384 | Sep 08, 2015 (146) |
| 32 | ILLUMINA | ss835000626 | Sep 08, 2015 (146) |
| 33 | EVA-GONL | ss992830730 | Aug 21, 2014 (142) |
| 34 | 1000GENOMES | ss1357561449 | Aug 21, 2014 (142) |
| 35 | EVA_FINRISK | ss1584102412 | Apr 01, 2015 (144) |
| 36 | EVA_UK10K_ALSPAC | ss1635117240 | Apr 01, 2015 (144) |
| 37 | EVA_UK10K_TWINSUK | ss1678111273 | Apr 01, 2015 (144) |
| 38 | EVA_EXAC | ss1692487485 | Apr 01, 2015 (144) |
| 39 | EVA_DECODE | ss1696872309 | Apr 01, 2015 (144) |
| 40 | EVA_MGP | ss1711441355 | Apr 01, 2015 (144) |
| 41 | ILLUMINA | ss1752213139 | Sep 08, 2015 (146) |
| 42 | ILLUMINA | ss1917911991 | Feb 12, 2016 (147) |
| 43 | WEILL_CORNELL_DGM | ss1936272973 | Feb 12, 2016 (147) |
| 44 | ILLUMINA | ss1946424252 | Feb 12, 2016 (147) |
| 45 | ILLUMINA | ss1959711640 | Feb 12, 2016 (147) |
| 46 | JJLAB | ss2028926297 | Sep 14, 2016 (149) |
| 47 | ILLUMINA | ss2095070734 | Dec 20, 2016 (150) |
| 48 | ILLUMINA | ss2095070735 | Dec 20, 2016 (150) |
| 49 | ILLUMINA | ss2095070736 | Dec 20, 2016 (150) |
| 50 | USC_VALOUEV | ss2157367877 | Dec 20, 2016 (150) |
| 51 | HUMAN_LONGEVITY | ss2214824187 | Dec 20, 2016 (150) |
| 52 | ILLUMINA | ss2633363340 | Nov 08, 2017 (151) |
| 53 | ILLUMINA | ss2635067380 | Nov 08, 2017 (151) |
| 54 | GNOMAD | ss2742271353 | Nov 08, 2017 (151) |
| 55 | GNOMAD | ss2749635798 | Nov 08, 2017 (151) |
| 56 | GNOMAD | ss2946702231 | Nov 08, 2017 (151) |
| 57 | AFFY | ss2985080453 | Nov 08, 2017 (151) |
| 58 | AFFY | ss2985718376 | Nov 08, 2017 (151) |
| 59 | SWEGEN | ss3015041393 | Nov 08, 2017 (151) |
| 60 | ILLUMINA | ss3021742095 | Nov 08, 2017 (151) |
| 61 | CSHL | ss3351606489 | Nov 08, 2017 (151) |
| 62 | ILLUMINA | ss3627602949 | Oct 12, 2018 (152) |
| 63 | ILLUMINA | ss3627602950 | Oct 12, 2018 (152) |
| 64 | ILLUMINA | ss3631346734 | Oct 12, 2018 (152) |
| 65 | ILLUMINA | ss3634658689 | Oct 12, 2018 (152) |
| 66 | ILLUMINA | ss3638143982 | Oct 12, 2018 (152) |
| 67 | ILLUMINA | ss3640366009 | Oct 12, 2018 (152) |
| 68 | ILLUMINA | ss3643123676 | Oct 12, 2018 (152) |
| 69 | ILLUMINA | ss3644677333 | Oct 12, 2018 (152) |
| 70 | BIOINF_KMB_FNS_UNIBA | ss3645435732 | Oct 12, 2018 (152) |
| 71 | URBANLAB | ss3650579997 | Oct 12, 2018 (152) |
| 72 | ILLUMINA | ss3652154494 | Oct 12, 2018 (152) |
| 73 | ILLUMINA | ss3652154495 | Oct 12, 2018 (152) |
| 74 | ILLUMINA | ss3652154496 | Oct 12, 2018 (152) |
| 75 | ILLUMINA | ss3653852550 | Oct 12, 2018 (152) |
| 76 | EGCUT_WGS | ss3682019194 | Jul 13, 2019 (153) |
| 77 | EVA_DECODE | ss3699905747 | Jul 13, 2019 (153) |
| 78 | ILLUMINA | ss3725591491 | Jul 13, 2019 (153) |
| 79 | ACPOP | ss3741791958 | Jul 13, 2019 (153) |
| 80 | ILLUMINA | ss3744436940 | Jul 13, 2019 (153) |
| 81 | ILLUMINA | ss3744959052 | Jul 13, 2019 (153) |
| 82 | EVA | ss3754343126 | Jul 13, 2019 (153) |
| 83 | PAGE_CC | ss3771903553 | Jul 13, 2019 (153) |
| 84 | ILLUMINA | ss3772457156 | Jul 13, 2019 (153) |
| 85 | EVA | ss3825053888 | Apr 27, 2020 (154) |
| 86 | EVA | ss3825887455 | Apr 27, 2020 (154) |
| 87 | EVA | ss3834732216 | Apr 27, 2020 (154) |
| 88 | SGDP_PRJ | ss3885136854 | Apr 27, 2020 (154) |
| 89 | KRGDB | ss3934702349 | Apr 27, 2020 (154) |
| 90 | KOGIC | ss3978222951 | Apr 27, 2020 (154) |
| 91 | NORTHRUP_AU | ss3983909052 | Apr 27, 2021 (155) |
| 92 | EVA | ss3984718273 | Apr 27, 2021 (155) |
| 93 | EVA | ss3985776304 | Apr 27, 2021 (155) |
| 94 | EVA | ss3986703908 | Apr 27, 2021 (155) |
| 95 | TOPMED | ss5026622751 | Apr 27, 2021 (155) |
| 96 | TOMMO_GENOMICS | ss5221067070 | Apr 27, 2021 (155) |
| 97 | EVA | ss5237570268 | Apr 27, 2021 (155) |
| 98 | EVA | ss5237667449 | Oct 16, 2022 (156) |
| 99 | 1000G_HIGH_COVERAGE | ss5302107356 | Oct 16, 2022 (156) |
| 100 | EVA | ss5425824623 | Oct 16, 2022 (156) |
| 101 | HUGCELL_USP | ss5495328318 | Oct 16, 2022 (156) |
| 102 | EVA | ss5511703767 | Oct 16, 2022 (156) |
| 103 | 1000G_HIGH_COVERAGE | ss5605329370 | Oct 16, 2022 (156) |
| 104 | SANFORD_IMAGENETICS | ss5659545422 | Oct 16, 2022 (156) |
| 105 | TOMMO_GENOMICS | ss5776520272 | Oct 16, 2022 (156) |
| 106 | EVA | ss5799457380 | Oct 16, 2022 (156) |
| 107 | EVA | ss5846860260 | Oct 16, 2022 (156) |
| 108 | EVA | ss5847783829 | Oct 16, 2022 (156) |
| 109 | EVA | ss5848435443 | Oct 16, 2022 (156) |
| 110 | EVA | ss5900402876 | Oct 16, 2022 (156) |
| 111 | EVA | ss5950960240 | Oct 16, 2022 (156) |
| 112 | 1000Genomes | NC_000016.9 - 89986117 | Oct 12, 2018 (152) |
| 113 | 1000Genomes_30x | NC_000016.10 - 89919709 | Oct 16, 2022 (156) |
| 114 | The Avon Longitudinal Study of Parents and Children | NC_000016.9 - 89986117 | Oct 12, 2018 (152) |
| 115 | Chileans | NC_000016.9 - 89986117 | Apr 27, 2020 (154) |
| 116 | Genetic variation in the Estonian population | NC_000016.9 - 89986117 | Oct 12, 2018 (152) |
| 117 | ExAC | NC_000016.9 - 89986117 | Oct 12, 2018 (152) |
| 118 | FINRISK | NC_000016.9 - 89986117 | Apr 27, 2020 (154) |
| 119 | gnomAD - Genomes | NC_000016.10 - 89919709 | Apr 27, 2021 (155) |
| 120 | gnomAD - Exomes | NC_000016.9 - 89986117 | Jul 13, 2019 (153) |
| 121 | Genome of the Netherlands Release 5 | NC_000016.9 - 89986117 | Apr 27, 2020 (154) |
| 122 | HapMap | NC_000016.10 - 89919709 | Apr 27, 2020 (154) |
| 123 | KOREAN population from KRGDB | NC_000016.9 - 89986117 | Apr 27, 2020 (154) |
| 124 | Korean Genome Project | NC_000016.10 - 89919709 | Apr 27, 2020 (154) |
| 125 | Medical Genome Project healthy controls from Spanish population | NC_000016.9 - 89986117 | Apr 27, 2020 (154) |
| 126 | Northern Sweden | NC_000016.9 - 89986117 | Jul 13, 2019 (153) |
| 127 | The PAGE Study | NC_000016.10 - 89919709 | Jul 13, 2019 (153) |
| 128 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000016.9 - 89986117 | Apr 27, 2021 (155) |
| 129 | CNV burdens in cranial meningiomas | NC_000016.9 - 89986117 | Apr 27, 2021 (155) |
| 130 | Qatari | NC_000016.9 - 89986117 | Apr 27, 2020 (154) |
| 131 | SGDP_PRJ | NC_000016.9 - 89986117 | Apr 27, 2020 (154) |
| 132 | Siberian | NC_000016.9 - 89986117 | Apr 27, 2020 (154) |
| 133 | 8.3KJPN | NC_000016.9 - 89986117 | Apr 27, 2021 (155) |
| 134 | 14KJPN | NC_000016.10 - 89919709 | Oct 16, 2022 (156) |
| 135 | TopMed | NC_000016.10 - 89919709 | Apr 27, 2021 (155) |
| 136 | UK 10K study - Twins | NC_000016.9 - 89986117 | Oct 12, 2018 (152) |
| 137 | ALFA | NC_000016.10 - 89919709 | Apr 27, 2021 (155) |
| 138 | ClinVar | RCV000015385.30 | Oct 12, 2018 (152) |
| 139 | ClinVar | RCV000015386.25 | Oct 12, 2018 (152) |
| 140 | ClinVar | RCV000015387.30 | Oct 12, 2018 (152) |
| 141 | ClinVar | RCV000242808.3 | Oct 16, 2022 (156) |
| 142 | ClinVar | RCV000255991.5 | Oct 16, 2022 (156) |
| 143 | ClinVar | RCV000472249.9 | 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) |
|---|---|
| rs3212380 | Dec 16, 2002 (110) |
| rs17719568 | Oct 08, 2004 (123) |
| rs56569770 | May 24, 2008 (130) |
| rs386505388 | Aug 06, 2014 (136) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss2095070736 | NC_000016.9:89986116:C:A | NC_000016.10:89919708:C:A | (self) |
| ss2095070734, ss3652154495, ss5847783829 | NC_000016.9:89986116:C:G | NC_000016.10:89919708:C:G | (self) |
| ss48295620, ss104853767 | NT_010542.15:1546733:C:G | NC_000016.10:89919708:C:G | (self) |
| ss168672682, ss171740728, ss255886932, ss483589379, ss491725590, ss1696872309, ss2635067380, ss3643123676 | NC_000016.8:88513617:C:T | NC_000016.10:89919708:C:T | (self) |
| 70762812, 39253509, 175974, 27757442, 2907941, 98873, 11564234, 17497977, 41879743, 557115, 15076823, 1002231, 267812, 18314895, 37153834, 9884231, 79036377, 39253509, ss237150929, ss484262558, ss491513800, ss536447756, ss713340312, ss779530072, ss780722556, ss782577305, ss783398384, ss835000626, ss992830730, ss1357561449, ss1584102412, ss1635117240, ss1678111273, ss1692487485, ss1711441355, ss1752213139, ss1917911991, ss1936272973, ss1946424252, ss1959711640, ss2028926297, ss2095070735, ss2157367877, ss2633363340, ss2742271353, ss2749635798, ss2946702231, ss2985080453, ss2985718376, ss3015041393, ss3021742095, ss3351606489, ss3627602949, ss3627602950, ss3631346734, ss3634658689, ss3638143982, ss3640366009, ss3644677333, ss3652154494, ss3652154496, ss3653852550, ss3682019194, ss3741791958, ss3744436940, ss3744959052, ss3754343126, ss3772457156, ss3825053888, ss3825887455, ss3834732216, ss3885136854, ss3934702349, ss3983909052, ss3984718273, ss3985776304, ss3986703908, ss5221067070, ss5237570268, ss5425824623, ss5511703767, ss5659545422, ss5799457380, ss5846860260, ss5847783829, ss5848435443, ss5950960240 | NC_000016.9:89986116:C:T | NC_000016.10:89919708:C:T | (self) |
| RCV000015385.30, RCV000015386.25, RCV000015387.30, RCV000242808.3, RCV000255991.5, RCV000472249.9, 92855305, 498997370, 1443715, 34600952, 1125022, 110357376, 242168412, 9640364327, ss244239409, ss275515488, ss2214824187, ss3645435732, ss3650579997, ss3699905747, ss3725591491, ss3771903553, ss3978222951, ss5026622751, ss5237667449, ss5302107356, ss5495328318, ss5605329370, ss5776520272, ss5900402876 | NC_000016.10:89919708:C:T | NC_000016.10:89919708:C:T | (self) |
| ss2425920, ss4472756, ss24695277, ss40730574, ss48295620, ss48410325, ss69355432, ss74872101, ss76592246, ss96709093, ss104853767, ss120037034, ss172926359, ss244267385, ss410916088 | NT_010542.15:1546733:C:T | NC_000016.10:89919708:C:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
58
citations for rs1805007
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 9571181 | Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor. | Frändberg PA et al. | 1998 | Biochemical and biophysical research communications |
| 12876664 | MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). | King RA et al. | 2003 | American journal of human genetics |
| 15994880 | Melanocortin-1 receptor gene variants affect pain and mu-opioid analgesia in mice and humans. | Mogil JS et al. | 2005 | Journal of medical genetics |
| 16463023 | Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians. | Nakayama K et al. | 2006 | Human genetics |
| 16595073 | Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations. | Savas S et al. | 2006 | Human genomics |
| 16601669 | Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population. | Stratigos AJ et al. | 2006 | The Journal of investigative dermatology |
| 17616515 | Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles. | Beaumont KA et al. | 2007 | Human molecular genetics |
| 17952075 | Genetic determinants of hair, eye and skin pigmentation in Europeans. | Sulem P et al. | 2007 | Nature genetics |
| 17999355 | A genomewide association study of skin pigmentation in a South Asian population. | Stokowski RP et al. | 2007 | American journal of human genetics |
| 19194882 | Genetic determinants of hair color and Parkinson's disease risk. | Gao X et al. | 2009 | Annals of neurology |
| 19710684 | Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. | Duffy DL et al. | 2010 | The Journal of investigative dermatology |
| 19812545 | Origins and functional impact of copy number variation in the human genome. | Conrad DF et al. | 2010 | Nature |
| 19884608 | Interactive effect of stressful life events and the serotonin transporter 5-HTTLPR genotype on posttraumatic stress disorder diagnosis in 2 independent populations. | Xie P et al. | 2009 | Archives of general psychiatry |
| 20042077 | Genetic determinants of hair and eye colours in the Scottish and Danish populations. | Mengel-From J et al. | 2009 | BMC genetics |
| 20158590 | Predicting phenotype from genotype: normal pigmentation. | Valenzuela RK et al. | 2010 | Journal of forensic sciences |
| 20393453 | Interaction of FKBP5 with childhood adversity on risk for post-traumatic stress disorder. | Xie P et al. | 2010 | Neuropsychopharmacology |
| 20546537 | Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis. | Gerstenblith MR et al. | 2010 | Pigment cell & melanoma research |
| 20585627 | Web-based, participant-driven studies yield novel genetic associations for common traits. | Eriksson N et al. | 2010 | PLoS genetics |
| 20670983 | The Multiple Sclerosis Severity Score: associations with MC1R single nucleotide polymorphisms and host response to ultraviolet radiation. | Strange RC et al. | 2010 | Multiple sclerosis (Houndmills, Basingstoke, England) |
| 20691402 | Whole-genome genetic diversity in a sample of Australians with deep Aboriginal ancestry. | McEvoy BP et al. | 2010 | American journal of human genetics |
| 20876667 | Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review. | Panagiotou OA et al. | 2010 | American journal of epidemiology |
| 21197618 | Model-based prediction of human hair color using DNA variants. | Branicki W et al. | 2011 | Human genetics |
| 21445957 | Association of CHRNA4 polymorphisms with smoking behavior in two populations. | Han S et al. | 2011 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 21700618 | Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma. | Nan H et al. | 2011 | Human molecular genetics |
| 21829225 | People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population. | Winney B et al. | 2012 | European journal of human genetics |
| 21926416 | Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. | Amos CI et al. | 2011 | Human molecular genetics |
| 22140526 | Detecting low frequent loss-of-function alleles in genome wide association studies with red hair color as example. | Liu F et al. | 2011 | PloS one |
| 22629401 | Evaluation of genetic markers as instruments for Mendelian randomization studies on vitamin D. | Berry DJ et al. | 2012 | PloS one |
| 23393597 | Replication and predictive value of SNPs associated with melanoma and pigmentation traits in a Southern European case-control study. | Stefanaki I et al. | 2013 | PloS one |
| 23927501 | Why it is hard to find genes associated with social science traits: theoretical and empirical considerations. | Chabris CF et al. | 2013 | American journal of public health |
| 24086514 | Association of polymorphisms in pharmacogenetic candidate genes (OPRD1, GAL, ABCB1, OPRM1) with opioid dependence in European population: a case-control study. | Beer B et al. | 2013 | PloS one |
| 24274136 | Biobanking across the phenome - at the center of chronic disease research. | Imboden M et al. | 2013 | BMC public health |
| 24439955 | Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease. | Dong J et al. | 2014 | Neurobiology of aging |
| 24473444 | The α-endomannosidase gene (MANEA) is associated with panic disorder and social anxiety disorder. | Jensen KP et al. | 2014 | Translational psychiatry |
| 24809478 | Implications of the admixture process in skin color molecular assessment. | Cerqueira CC et al. | 2014 | PloS one |
| 24924479 | Skin pigmentation, sun exposure and vitamin D levels in children of the Avon Longitudinal Study of Parents and Children. | Bonilla C et al. | 2014 | BMC public health |
| 25159867 | Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome. | Yasar B et al. | 2015 | European journal of human genetics |
| 25631192 | The MC1R melanoma risk variant p.R160W is associated with Parkinson disease. | Tell-Marti G et al. | 2015 | Annals of neurology |
| 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 |
| 25945350 | Variants of SCARB1 and VDR Involved in Complex Genetic Interactions May Be Implicated in the Genetic Susceptibility to Clear Cell Renal Cell Carcinoma. | Pośpiech E et al. | 2015 | BioMed research international |
| 26547235 | Crowdsourced direct-to-consumer genomic analysis of a family quartet. | Corpas M et al. | 2015 | BMC genomics |
| 26848990 | Biochip-Based Genotyping Assay for Detection of Polymorphisms in Pigmentation Genes Associated with Cutaneous Melanoma. | Fesenko DO et al. | 2016 | Genetic testing and molecular biomarkers |
| 27047535 | Global Intersection of Long Non-Coding RNAs with Processed and Unprocessed Pseudogenes in the Human Genome. | Milligan MJ et al. | 2016 | Frontiers in genetics |
| 27424798 | Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma. | Chahal HS et al. | 2016 | Nature communications |
| 27459457 | Epidemiological Assessments of Skin Outcomes in the Nurses' Health Studies. | Li WQ et al. | 2016 | American journal of public health |
| 27539887 | Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. | Chahal HS et al. | 2016 | Nature communications |
| 27716216 | The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum. | Gerhard GS et al. | 2016 | BMC medical genomics |
| 28081215 | Genome-Wide Association Studies of Multiple Keratinocyte Cancers. | Pardo LM et al. | 2017 | PloS one |
| 28242083 | Association of five SNPs with human hair colour in the Polish population. | Siewierska-Górska A et al. | 2017 | Homo |
| 29054604 | Susceptibility Loci-Associated Cutaneous Squamous Cell Carcinoma Invasiveness. | Wang W et al. | 2018 | The Journal of investigative dermatology |
| 29518100 | Associations between sun sensitive pigmentary genes and serum prostate specific antigen levels. | Nair-Shalliker V et al. | 2018 | PloS one |
| 29771307 | Assessment of rosacea symptom severity by genome-wide association study and expression analysis highlights immuno-inflammatory and skin pigmentation genes. | Aponte JL et al. | 2018 | Human molecular genetics |
| 30657907 | A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect. | Zorina-Lichtenwalter K et al. | 2019 | Human molecular genetics |
| 31612033 | The complementary effect of rs1042522 in TP53 and rs1805007 in MC1R is associated with an elevated risk of cutaneous melanoma in Latvian population. | Ozola A et al. | 2019 | Oncology letters |
| 32121219 | Environmental UVR Levels and Skin Pigmentation Gene Variants Associated with Folate and Homocysteine Levels in an Elderly Cohort. | Jones P et al. | 2020 | International journal of environmental research and public health |
| 35176104 | Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel. | Rauf S et al. | 2022 | PloS one |
| 35188998 | MC1R diversity and its role in skin pigmentation variation in West Maharashtra, India. | Jonnalagadda M et al. | 2022 | American journal of human biology |
| 35955479 | Implication of Melanocortin Receptor Genes in the Familial Comorbidity of Type 2 Diabetes and Depression. | Amin M et al. | 2022 | International journal of molecular sciences |
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.