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.
rs16891982
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr5:33951588 (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
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.411224 (108847/264690, TOPMED)C=0.354960 (89244/251420, GnomAD_exome)C=0.359699 (43630/121296, ExAC) (+ 20 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- SLC45A2 : Missense Variant
- Publications
- 76 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 | 39990 | C=0.13431 | A=0.00000, G=0.86569 |
| European | Sub | 29684 | C=0.04494 | A=0.00000, G=0.95506 |
| African | Sub | 2754 | C=0.8646 | A=0.0000, G=0.1354 |
| African Others | Sub | 120 | C=0.983 | A=0.000, G=0.017 |
| African American | Sub | 2634 | C=0.8591 | A=0.0000, G=0.1409 |
| Asian | Sub | 164 | C=0.994 | A=0.000, G=0.006 |
| East Asian | Sub | 108 | C=1.000 | A=0.000, G=0.000 |
| Other Asian | Sub | 56 | C=0.98 | A=0.00, G=0.02 |
| Latin American 1 | Sub | 394 | C=0.627 | A=0.000, G=0.373 |
| Latin American 2 | Sub | 202 | C=0.941 | A=0.000, G=0.059 |
| South Asian | Sub | 78 | C=0.99 | A=0.00, G=0.01 |
| Other | Sub | 6714 | C=0.1458 | A=0.0000, G=0.8542 |
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=0.411224 | G=0.588776 |
| gnomAD - Exomes | Global | Study-wide | 251420 | C=0.354960 | G=0.645040 |
| gnomAD - Exomes | European | Sub | 135376 | C=0.040502 | G=0.959498 |
| gnomAD - Exomes | Asian | Sub | 49004 | C=0.93876 | G=0.06124 |
| gnomAD - Exomes | American | Sub | 34570 | C=0.61863 | G=0.38137 |
| gnomAD - Exomes | African | Sub | 16252 | C=0.85220 | G=0.14780 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10078 | C=0.08990 | G=0.91010 |
| gnomAD - Exomes | Other | Sub | 6140 | C=0.2632 | G=0.7368 |
| ExAC | Global | Study-wide | 121296 | C=0.359699 | G=0.640301 |
| ExAC | Europe | Sub | 73320 | C=0.04523 | G=0.95477 |
| ExAC | Asian | Sub | 25132 | C=0.93825 | G=0.06175 |
| ExAC | American | Sub | 11540 | C=0.66092 | G=0.33908 |
| ExAC | African | Sub | 10396 | C=0.84542 | G=0.15458 |
| ExAC | Other | Sub | 908 | C=0.350 | G=0.650 |
| Allele Frequency Aggregator | Total | Global | 39990 | C=0.13431 | A=0.00000, G=0.86569 |
| Allele Frequency Aggregator | European | Sub | 29684 | C=0.04494 | A=0.00000, G=0.95506 |
| Allele Frequency Aggregator | Other | Sub | 6714 | C=0.1458 | A=0.0000, G=0.8542 |
| Allele Frequency Aggregator | African | Sub | 2754 | C=0.8646 | A=0.0000, G=0.1354 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 394 | C=0.627 | A=0.000, G=0.373 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 202 | C=0.941 | A=0.000, G=0.059 |
| Allele Frequency Aggregator | Asian | Sub | 164 | C=0.994 | A=0.000, G=0.006 |
| Allele Frequency Aggregator | South Asian | Sub | 78 | C=0.99 | A=0.00, G=0.01 |
| 14KJPN | JAPANESE | Study-wide | 28258 | C=0.99989 | G=0.00011 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.99988 | G=0.00012 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.7245 | G=0.2755 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.9698 | G=0.0302 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.0664 | G=0.9336 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.9426 | G=0.0574 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.9923 | G=0.0077 |
| 1000Genomes_30x | American | Sub | 980 | C=0.541 | G=0.459 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.7250 | G=0.2750 |
| 1000Genomes | African | Sub | 1322 | C=0.9644 | G=0.0356 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.9940 | G=0.0060 |
| 1000Genomes | Europe | Sub | 1006 | C=0.0616 | G=0.9384 |
| 1000Genomes | South Asian | Sub | 978 | C=0.941 | G=0.059 |
| 1000Genomes | American | Sub | 694 | C=0.536 | G=0.464 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.0165 | G=0.9835 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.0348 | G=0.9652 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.0289 | G=0.9711 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | C=0.9993 | G=0.0007 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1132 | C=0.3428 | G=0.6572 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 624 | C=0.178 | G=0.822 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | C=0.604 | G=0.396 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | C=0.623 | G=0.377 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | C=0.056 | G=0.944 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | C=0.96 | G=0.04 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | C=0.39 | G=0.61 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.020 | G=0.980 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 790 | C=0.990 | G=0.010 |
| CNV burdens in cranial meningiomas | CRM | Sub | 790 | C=0.990 | G=0.010 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.030 | G=0.970 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.199 | G=0.801 |
| HapMap | Global | Study-wide | 312 | C=0.635 | G=0.365 |
| HapMap | American | Sub | 116 | C=0.017 | G=0.983 |
| HapMap | African | Sub | 114 | C=1.000 | G=0.000 |
| HapMap | Asian | Sub | 82 | C=1.00 | G=0.00 |
| Qatari | Global | Study-wide | 216 | C=0.935 | G=0.065 |
| SGDP_PRJ | Global | Study-wide | 174 | C=0.201 | G=0.799 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 82 | C=0.71 | G=0.29 |
| Siberian | Global | Study-wide | 42 | C=0.07 | G=0.93 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.05 | G=0.95 |
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 5 | NC_000005.10:g.33951588C>A |
| GRCh38.p14 chr 5 | NC_000005.10:g.33951588C>G |
| GRCh37.p13 chr 5 | NC_000005.9:g.33951693C>A |
| GRCh37.p13 chr 5 | NC_000005.9:g.33951693C>G |
| SLC45A2 RefSeqGene | NG_011691.2:g.38088C>G |
| SLC45A2 RefSeqGene | NG_011691.2:g.38088C>T |
| GRCh38.p14 chr 5 alt locus HSCHR5_6_CTG1 | NT_187551.1:g.152910C>A |
| GRCh38.p14 chr 5 alt locus HSCHR5_6_CTG1 | NT_187551.1:g.152910C>G |
Gene: SLC45A2, solute carrier family 45 member 2
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| SLC45A2 transcript variant 3 | NM_001297417.4:c.*64= | N/A | 3 Prime UTR Variant |
| SLC45A2 transcript variant 1 | NM_016180.5:c.1122G>T | L [TTG] > F [TTT] | Coding Sequence Variant |
| membrane-associated transporter protein isoform a | NP_057264.4:p.Leu374Phe | L (Leu) > F (Phe) | Missense Variant |
| SLC45A2 transcript variant 1 | NM_016180.5:c.1122G>C | L [TTG] > F [TTC] | Coding Sequence Variant |
| membrane-associated transporter protein isoform a | NP_057264.4:p.Leu374Phe | L (Leu) > F (Phe) | Missense Variant |
| SLC45A2 transcript variant 2 | NM_001012509.4:c.1122G>T | L [TTG] > F [TTT] | Coding Sequence Variant |
| membrane-associated transporter protein isoform b | NP_001012527.2:p.Leu374Phe | L (Leu) > F (Phe) | Missense Variant |
| SLC45A2 transcript variant 2 | NM_001012509.4:c.1122G>C | L [TTG] > F [TTC] | Coding Sequence Variant |
| membrane-associated transporter protein isoform b | NP_001012527.2:p.Leu374Phe | L (Leu) > F (Phe) | Missense Variant |
| SLC45A2 transcript variant X2 | XM_047417260.1:c. | N/A | Genic Downstream Transcript Variant |
| SLC45A2 transcript variant X1 | XM_047417259.1:c.882G>T | L [TTG] > F [TTT] | Coding Sequence Variant |
| membrane-associated transporter protein isoform X1 | XP_047273215.1:p.Leu294Phe | L (Leu) > F (Phe) | Missense Variant |
| SLC45A2 transcript variant X1 | XM_047417259.1:c.882G>C | L [TTG] > F [TTC] | Coding Sequence Variant |
| membrane-associated transporter protein isoform X1 | XP_047273215.1:p.Leu294Phe | L (Leu) > F (Phe) | 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: C= (allele ID:
19544
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000004763.4 | Skin/hair/eye pigmentation, variation in, 5 | Association |
| RCV000022392.1 | Malignant melanoma of skin | Protective |
| RCV000948184.5 | not provided | Benign |
Allele: G (allele ID:
194990
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000178963.3 | not specified | Benign |
| RCV001519776.6 | not provided | Benign |
| RCV001808456.2 | Oculocutaneous albinism type 4 | 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 |
|---|---|---|---|
| GRCh38.p14 chr 5 | NC_000005.10:g.33951588= | NC_000005.10:g.33951588C>A | NC_000005.10:g.33951588C>G |
| GRCh37.p13 chr 5 | NC_000005.9:g.33951693= | NC_000005.9:g.33951693C>A | NC_000005.9:g.33951693C>G |
| SLC45A2 RefSeqGene | NG_011691.2:g.38088C>G | NG_011691.2:g.38088C>T | NG_011691.2:g.38088= |
| SLC45A2 transcript variant 1 | NM_016180.5:c.1122= | NM_016180.5:c.1122G>T | NM_016180.5:c.1122G>C |
| SLC45A2 transcript variant 1 | NM_016180.4:c.1122C>G | NM_016180.4:c.1122C>T | NM_016180.4:c.1122= |
| SLC45A2 transcript variant 1 | NM_016180.3:c.1122C>G | NM_016180.3:c.1122C>T | NM_016180.3:c.1122= |
| SLC45A2 transcript variant 2 | NM_001012509.4:c.1122= | NM_001012509.4:c.1122G>T | NM_001012509.4:c.1122G>C |
| SLC45A2 transcript variant 2 | NM_001012509.3:c.1122C>G | NM_001012509.3:c.1122C>T | NM_001012509.3:c.1122= |
| SLC45A2 transcript variant 2 | NM_001012509.2:c.1122C>G | NM_001012509.2:c.1122C>T | NM_001012509.2:c.1122= |
| SLC45A2 transcript variant 3 | NM_001297417.4:c.*64= | NM_001297417.4:c.*64G>T | NM_001297417.4:c.*64G>C |
| SLC45A2 transcript variant 3 | NM_001297417.3:c.*64= | NM_001297417.3:c.*64G>T | NM_001297417.3:c.*64G>C |
| SLC45A2 transcript variant 3 | NM_001297417.2:c.*64C>G | NM_001297417.2:c.*64C>T | NM_001297417.2:c.*64= |
| SLC45A2 transcript variant 3 | NM_001297417.1:c.*64C>G | NM_001297417.1:c.*64C>T | NM_001297417.1:c.*64= |
| GRCh38.p14 chr 5 alt locus HSCHR5_6_CTG1 | NT_187551.1:g.152910= | NT_187551.1:g.152910C>A | NT_187551.1:g.152910C>G |
| SLC45A2 transcript variant X1 | XM_047417259.1:c.882= | XM_047417259.1:c.882G>T | XM_047417259.1:c.882G>C |
| membrane-associated transporter protein isoform a | NP_057264.4:p.Leu374= | NP_057264.4:p.Leu374Phe | NP_057264.4:p.Leu374Phe |
| membrane-associated transporter protein isoform b | NP_001012527.2:p.Leu374= | NP_001012527.2:p.Leu374Phe | NP_001012527.2:p.Leu374Phe |
| membrane-associated transporter protein isoform X1 | XP_047273215.1:p.Leu294= | XP_047273215.1:p.Leu294Phe | XP_047273215.1:p.Leu294Phe |
| membrane-associated transporter protein isoform b | NP_001012527.1:p.Phe374Leu | NP_001012527.1:p.Phe374= | NP_001012527.1:p.Phe374= |
| membrane-associated transporter protein isoform a | NP_057264.3:p.Phe374Leu | NP_057264.3:p.Phe374= | NP_057264.3:p.Phe374= |
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,
25 Frequency,
6 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | PERLEGEN | ss23456916 | Sep 20, 2004 (123) |
| 2 | MGC_GENOME_DIFF | ss28510204 | Sep 24, 2004 (126) |
| 3 | ABI | ss44669869 | Mar 10, 2006 (126) |
| 4 | PERLEGEN | ss68931899 | May 16, 2007 (127) |
| 5 | AFFY | ss74816457 | Aug 16, 2007 (128) |
| 6 | ILLUMINA | ss74858559 | Dec 06, 2007 (129) |
| 7 | HGSV | ss78414960 | Dec 06, 2007 (129) |
| 8 | CORNELL | ss86270034 | Mar 23, 2008 (129) |
| 9 | BCMHGSC_JDW | ss93054654 | Mar 24, 2008 (129) |
| 10 | HUMANGENOME_JCVI | ss98610228 | Feb 06, 2009 (130) |
| 11 | 1000GENOMES | ss108947755 | Jan 23, 2009 (130) |
| 12 | ENSEMBL | ss143019484 | Dec 01, 2009 (131) |
| 13 | ENSEMBL | ss143988735 | Dec 01, 2009 (131) |
| 14 | ILLUMINA | ss153570135 | Dec 01, 2009 (131) |
| 15 | ILLUMINA | ss159296044 | Dec 01, 2009 (131) |
| 16 | SEATTLESEQ | ss159709227 | Dec 01, 2009 (131) |
| 17 | COMPLETE_GENOMICS | ss162160738 | Jul 04, 2010 (132) |
| 18 | COMPLETE_GENOMICS | ss166398089 | Jul 04, 2010 (132) |
| 19 | ILLUMINA | ss172648543 | Jul 04, 2010 (132) |
| 20 | BCM-HGSC-SUB | ss206963162 | Jul 04, 2010 (132) |
| 21 | 1000GENOMES | ss232898702 | Jul 14, 2010 (132) |
| 22 | ILLUMINA | ss244281104 | Jul 04, 2010 (132) |
| 23 | BL | ss253359461 | May 09, 2011 (134) |
| 24 | OMIM-CURATED-RECORDS | ss275513746 | Nov 22, 2010 (133) |
| 25 | GMI | ss285153617 | Apr 25, 2013 (138) |
| 26 | PJP | ss293564852 | May 09, 2011 (134) |
| 27 | NHLBI-ESP | ss342179194 | May 09, 2011 (134) |
| 28 | ILLUMINA | ss410909706 | Sep 17, 2011 (135) |
| 29 | PAGE_STUDY | ss469414443 | May 04, 2012 (137) |
| 30 | PAGE_STUDY | ss469415108 | May 04, 2012 (137) |
| 31 | 1000GENOMES | ss490901540 | May 04, 2012 (137) |
| 32 | EXOME_CHIP | ss491365273 | May 04, 2012 (137) |
| 33 | ILLUMINA | ss832808140 | Aug 21, 2014 (142) |
| 34 | ILLUMINA | ss833398970 | Aug 21, 2014 (142) |
| 35 | EVA-GONL | ss981430573 | Aug 21, 2014 (142) |
| 36 | JMKIDD_LAB | ss1067467357 | Aug 21, 2014 (142) |
| 37 | JMKIDD_LAB | ss1072530248 | Aug 21, 2014 (142) |
| 38 | 1000GENOMES | ss1314583040 | Aug 21, 2014 (142) |
| 39 | HAMMER_LAB | ss1397409772 | Sep 08, 2015 (146) |
| 40 | DDI | ss1430303032 | Apr 01, 2015 (144) |
| 41 | EVA_GENOME_DK | ss1581086762 | Apr 01, 2015 (144) |
| 42 | EVA_DECODE | ss1590953132 | Apr 01, 2015 (144) |
| 43 | EVA_UK10K_ALSPAC | ss1612627046 | Apr 01, 2015 (144) |
| 44 | EVA_UK10K_TWINSUK | ss1655621079 | Apr 01, 2015 (144) |
| 45 | EVA_EXAC | ss1687774625 | Apr 01, 2015 (144) |
| 46 | EVA_MGP | ss1711083763 | Apr 01, 2015 (144) |
| 47 | WEILL_CORNELL_DGM | ss1924692328 | Feb 12, 2016 (147) |
| 48 | GENOMED | ss1970059604 | Jul 19, 2016 (147) |
| 49 | JJLAB | ss2022948859 | Sep 14, 2016 (149) |
| 50 | ILLUMINA | ss2094818058 | Dec 20, 2016 (150) |
| 51 | USC_VALOUEV | ss2151099537 | Dec 20, 2016 (150) |
| 52 | HUMAN_LONGEVITY | ss2272760733 | Dec 20, 2016 (150) |
| 53 | ILLUMINA | ss2635142577 | Nov 08, 2017 (151) |
| 54 | GNOMAD | ss2734944774 | Nov 08, 2017 (151) |
| 55 | GNOMAD | ss2747368571 | Nov 08, 2017 (151) |
| 56 | GNOMAD | ss2823086945 | Nov 08, 2017 (151) |
| 57 | AFFY | ss2985318709 | Nov 08, 2017 (151) |
| 58 | AFFY | ss2985949465 | Nov 08, 2017 (151) |
| 59 | SWEGEN | ss2996714412 | Nov 08, 2017 (151) |
| 60 | BIOINF_KMB_FNS_UNIBA | ss3025259923 | Nov 08, 2017 (151) |
| 61 | CSHL | ss3346328181 | Nov 08, 2017 (151) |
| 62 | ILLUMINA | ss3638547022 | Oct 12, 2018 (152) |
| 63 | ILLUMINA | ss3643493561 | Oct 12, 2018 (152) |
| 64 | OMUKHERJEE_ADBS | ss3646317967 | Oct 12, 2018 (152) |
| 65 | URBANLAB | ss3648028556 | Oct 12, 2018 (152) |
| 66 | ILLUMINA | ss3654091892 | Oct 12, 2018 (152) |
| 67 | EGCUT_WGS | ss3664610907 | Jul 13, 2019 (153) |
| 68 | EVA_DECODE | ss3714441075 | Jul 13, 2019 (153) |
| 69 | ACPOP | ss3732244945 | Jul 13, 2019 (153) |
| 70 | EVA | ss3763276390 | Jul 13, 2019 (153) |
| 71 | PACBIO | ss3785077388 | Jul 13, 2019 (153) |
| 72 | PACBIO | ss3790489121 | Jul 13, 2019 (153) |
| 73 | PACBIO | ss3795365547 | Jul 13, 2019 (153) |
| 74 | KHV_HUMAN_GENOMES | ss3806451660 | Jul 13, 2019 (153) |
| 75 | EVA | ss3824075409 | Apr 26, 2020 (154) |
| 76 | EVA | ss3825671046 | Apr 26, 2020 (154) |
| 77 | EVA | ss3829184766 | Apr 26, 2020 (154) |
| 78 | EVA | ss3838060945 | Apr 26, 2020 (154) |
| 79 | EVA | ss3843500079 | Apr 26, 2020 (154) |
| 80 | SGDP_PRJ | ss3861583053 | Apr 26, 2020 (154) |
| 81 | KRGDB | ss3908053045 | Apr 26, 2020 (154) |
| 82 | FSA-LAB | ss3984303662 | Apr 26, 2021 (155) |
| 83 | EVA | ss3984545321 | Apr 26, 2021 (155) |
| 84 | EVA | ss3985134221 | Apr 26, 2021 (155) |
| 85 | EVA | ss3986304063 | Apr 26, 2021 (155) |
| 86 | VINODS | ss4024245278 | Apr 26, 2021 (155) |
| 87 | TOPMED | ss4655430805 | Apr 26, 2021 (155) |
| 88 | TOMMO_GENOMICS | ss5171148843 | Apr 26, 2021 (155) |
| 89 | EVA | ss5237011915 | Apr 26, 2021 (155) |
| 90 | EVA | ss5237185192 | Apr 26, 2021 (155) |
| 91 | EVA | ss5237643385 | Oct 13, 2022 (156) |
| 92 | 1000G_HIGH_COVERAGE | ss5263485472 | Oct 13, 2022 (156) |
| 93 | TRAN_CS_UWATERLOO | ss5314412294 | Oct 13, 2022 (156) |
| 94 | EVA | ss5356745848 | Oct 13, 2022 (156) |
| 95 | HUGCELL_USP | ss5461765308 | Oct 13, 2022 (156) |
| 96 | 1000G_HIGH_COVERAGE | ss5546867407 | Oct 13, 2022 (156) |
| 97 | EVA | ss5624146099 | Oct 13, 2022 (156) |
| 98 | SANFORD_IMAGENETICS | ss5637543198 | Oct 13, 2022 (156) |
| 99 | TOMMO_GENOMICS | ss5707032383 | Oct 13, 2022 (156) |
| 100 | EVA | ss5799402083 | Oct 13, 2022 (156) |
| 101 | EVA | ss5799424902 | Oct 13, 2022 (156) |
| 102 | EVA | ss5800053855 | Oct 13, 2022 (156) |
| 103 | EVA | ss5800120689 | Oct 13, 2022 (156) |
| 104 | YY_MCH | ss5806173330 | Oct 13, 2022 (156) |
| 105 | EVA | ss5834758401 | Oct 13, 2022 (156) |
| 106 | EVA | ss5848624728 | Oct 13, 2022 (156) |
| 107 | EVA | ss5893674607 | Oct 13, 2022 (156) |
| 108 | EVA | ss5936526824 | Oct 13, 2022 (156) |
| 109 | EVA | ss5965960160 | Oct 13, 2022 (156) |
| 110 | EVA | ss5980287840 | Oct 13, 2022 (156) |
| 111 | EVA | ss5981227362 | Oct 13, 2022 (156) |
| 112 | 1000Genomes | NC_000005.9 - 33951693 | Oct 12, 2018 (152) |
| 113 | 1000Genomes_30x | NC_000005.10 - 33951588 | Oct 13, 2022 (156) |
| 114 | The Avon Longitudinal Study of Parents and Children | NC_000005.9 - 33951693 | Oct 12, 2018 (152) |
| 115 | Genome-wide autozygosity in Daghestan | NC_000005.8 - 33987450 | Apr 26, 2020 (154) |
| 116 | Genetic variation in the Estonian population | NC_000005.9 - 33951693 | Oct 12, 2018 (152) |
| 117 | ExAC | NC_000005.9 - 33951693 | Oct 12, 2018 (152) |
| 118 | The Danish reference pan genome | NC_000005.9 - 33951693 | Apr 26, 2020 (154) |
| 119 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 120 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 121 | gnomAD - Exomes | NC_000005.9 - 33951693 | Jul 13, 2019 (153) |
| 122 | Genome of the Netherlands Release 5 | NC_000005.9 - 33951693 | Apr 26, 2020 (154) |
| 123 | HapMap | NC_000005.10 - 33951588 | Apr 26, 2020 (154) |
| 124 | KOREAN population from KRGDB | NC_000005.9 - 33951693 | Apr 26, 2020 (154) |
| 125 | Medical Genome Project healthy controls from Spanish population | NC_000005.9 - 33951693 | Apr 26, 2020 (154) |
| 126 | Northern Sweden | NC_000005.9 - 33951693 | Jul 13, 2019 (153) |
| 127 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000005.9 - 33951693 | Apr 26, 2021 (155) |
| 128 | CNV burdens in cranial meningiomas | NC_000005.9 - 33951693 | Apr 26, 2021 (155) |
| 129 | Qatari | NC_000005.9 - 33951693 | Apr 26, 2020 (154) |
| 130 | SGDP_PRJ | NC_000005.9 - 33951693 | Apr 26, 2020 (154) |
| 131 | Siberian | NC_000005.9 - 33951693 | Apr 26, 2020 (154) |
| 132 | 8.3KJPN | NC_000005.9 - 33951693 | Apr 26, 2021 (155) |
| 133 | 14KJPN | NC_000005.10 - 33951588 | Oct 13, 2022 (156) |
| 134 | TopMed | NC_000005.10 - 33951588 | Apr 26, 2021 (155) |
| 135 | UK 10K study - Twins | NC_000005.9 - 33951693 | Oct 12, 2018 (152) |
| 136 | ALFA | NC_000005.10 - 33951588 | Apr 26, 2021 (155) |
| 137 | ClinVar | RCV000004763.4 | Oct 12, 2018 (152) |
| 138 | ClinVar | RCV000022392.1 | Oct 12, 2018 (152) |
| 139 | ClinVar | RCV000178963.3 | Oct 13, 2022 (156) |
| 140 | ClinVar | RCV000948184.5 | Oct 13, 2022 (156) |
| 141 | ClinVar | RCV001519776.6 | Oct 13, 2022 (156) |
| 142 | ClinVar | RCV001808456.2 | Oct 13, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs17855902 | Mar 10, 2006 (126) |
| rs52801453 | Sep 21, 2007 (128) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 10944055137 | NC_000005.10:33951587:C:A | NC_000005.10:33951587:C:A | (self) |
| 384852, ss78414960, ss93054654, ss108947755, ss162160738, ss166398089, ss206963162, ss253359461, ss285153617, ss293564852, ss410909706, ss1397409772, ss1590953132, ss2635142577, ss3643493561 | NC_000005.8:33987449:C:G | NC_000005.10:33951587:C:G | (self) |
| 26165210, 14554487, 10349155, 7762376, 7251701, 4061240, 6466929, 15230439, 199523, 5529810, 360148, 94686, 6734258, 13600033, 3615891, 29118150, 14554487, ss232898702, ss342179194, ss490901540, ss491365273, ss832808140, ss833398970, ss981430573, ss1067467357, ss1072530248, ss1314583040, ss1430303032, ss1581086762, ss1612627046, ss1655621079, ss1687774625, ss1711083763, ss1924692328, ss1970059604, ss2022948859, ss2094818058, ss2151099537, ss2734944774, ss2747368571, ss2823086945, ss2985318709, ss2985949465, ss2996714412, ss3346328181, ss3638547022, ss3646317967, ss3654091892, ss3664610907, ss3732244945, ss3763276390, ss3785077388, ss3790489121, ss3795365547, ss3824075409, ss3825671046, ss3829184766, ss3838060945, ss3861583053, ss3908053045, ss3984303662, ss3984545321, ss3985134221, ss3986304063, ss5171148843, ss5356745848, ss5624146099, ss5637543198, ss5799402083, ss5799424902, ss5800053855, ss5800120689, ss5834758401, ss5848624728, ss5936526824, ss5965960160, ss5980287840, ss5981227362 | NC_000005.9:33951692:C:G | NC_000005.10:33951587:C:G | (self) |
| RCV000178963.3, RCV001519776.6, RCV001808456.2, 34393342, 2842876, 40869487, 492808362, 10944055137, ss275513746, ss2272760733, ss3025259923, ss3648028556, ss3714441075, ss3806451660, ss3843500079, ss4655430805, ss5237011915, ss5237185192, ss5237643385, ss5263485472, ss5314412294, ss5461765308, ss5546867407, ss5707032383, ss5806173330, ss5893674607 | NC_000005.10:33951587:C:G | NC_000005.10:33951587:C:G | (self) |
| ss23456916, ss28510204, ss44669869, ss68931899, ss74816457, ss74858559, ss86270034, ss98610228, ss143019484, ss143988735, ss153570135, ss159296044, ss159709227, ss172648543, ss244281104, ss469414443, ss469415108 | NT_006576.16:33941692:C:G | NC_000005.10:33951587:C:G | (self) |
| ss4024245278 | NT_187551.1:152909:C:G | NC_000005.10:33951587:C:G | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
76
citations for rs16891982
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 15714523 | Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation. | Graf J et al. | 2005 | Human mutation |
| 17044855 | Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis. | Yuasa I et al. | 2006 | Annals of human genetics |
| 17999355 | A genomewide association study of skin pigmentation in a South Asian population. | Stokowski RP et al. | 2007 | American journal of human genetics |
| 18483556 | A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. | Han J et al. | 2008 | PLoS genetics |
| 18563784 | SLC45A2: a novel malignant melanoma-associated gene. | Fernandez LP et al. | 2008 | Human mutation |
| 18683857 | Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population. | Guedj M et al. | 2008 | Human mutation |
| 18806926 | Association of the SLC45A2 gene with physiological human hair colour variation. | Branicki W et al. | 2008 | Journal of human genetics |
| 19340012 | Genome-wide association study of tanning phenotype in a population of European ancestry. | Nan H et al. | 2009 | The Journal of investigative dermatology |
| 19384953 | Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. | Nan H et al. | 2009 | International journal of cancer |
| 19440451 | Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations. | Giardina E et al. | 2008 | Current genomics |
| 19578363 | New common variants affecting susceptibility to basal cell carcinoma. | Stacey SN et al. | 2009 | Nature genetics |
| 19668368 | Ancestry analysis in the 11-M Madrid bomb attack investigation. | Phillips C et al. | 2009 | PloS one |
| 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 |
| 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 |
| 20457063 | Human eye colour and HERC2, OCA2 and MATP. | Mengel-From J et al. | 2010 | Forensic science international. Genetics |
| 20463881 | Digital quantification of human eye color highlights genetic association of three new loci. | Liu F et al. | 2010 | PLoS genetics |
| 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 |
| 20806075 | Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism. | Renugadevi K et al. | 2010 | Molecular vision |
| 20850402 | Genetic analysis of the SNPforID 34-plex ancestry informative SNP panel in Tunisian and Libyan populations. | Khodjet-el-Khil H et al. | 2011 | Forensic science international. Genetics |
| 20886636 | Evaluating self-declared ancestry of U.S. Americans with autosomal, Y-chromosomal and mitochondrial DNA. | Lao O et al. | 2010 | Human mutation |
| 20949057 | Identification of genetic and epigenetic marks involved in population structure. | Liu J et al. | 2010 | PloS one |
| 21197618 | Model-based prediction of human hair color using DNA variants. | Branicki W et al. | 2011 | Human genetics |
| 21559390 | A customized pigmentation SNP array identifies a novel SNP associated with melanoma predisposition in the SLC45A2 gene. | Ibarrola-Villava M et al. | 2011 | PloS one |
| 21589938 | Targeted assembly of short sequence reads. | Warren RL et al. | 2011 | PloS one |
| 21674838 | Genetic examination of the putative skull of Jan Kochanowski reveals its female sex. | Kupiec T et al. | 2011 | Croatian medical journal |
| 21926416 | Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. | Amos CI et al. | 2011 | Human molecular genetics |
| 21976407 | Genetic variability in DNA repair and cell cycle control pathway genes and risk of smoking-related lung cancer. | Buch SC et al. | 2012 | Molecular carcinogenesis |
| 21983787 | Genome-wide association study identifies three new melanoma susceptibility loci. | Barrett JH et al. | 2011 | Nature genetics |
| 22629401 | Evaluation of genetic markers as instruments for Mendelian randomization studies on vitamin D. | Berry DJ et al. | 2012 | PloS one |
| 23071798 | Functional assessment of human coding mutations affecting skin pigmentation using zebrafish. | Tsetskhladze ZR et al. | 2012 | PloS one |
| 23110848 | Human pigmentation genes under environmental selection. | Sturm RA et al. | 2012 | Genome biology |
| 23118974 | Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations. | Candille SI et al. | 2012 | PloS one |
| 23771755 | Improved eye- and skin-color prediction based on 8 SNPs. | Hart KL et al. | 2013 | Croatian medical journal |
| 23948321 | Genetic analyses of the human eye colours using a novel objective method for eye colour classification. | Andersen JD et al. | 2013 | Forensic science international. Genetics |
| 24270849 | Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. | Denny JC et al. | 2013 | Nature biotechnology |
| 24596592 | Ethnic characterization of a population of children exposed to high doses of arsenic via drinking water and a possible correlation with metabolic processes. | Bobillo C et al. | 2014 | International journal of molecular epidemiology and genetics |
| 24631691 | The effect of gender on eye colour variation in European populations and an evaluation of the IrisPlex prediction model. | Pietroni C et al. | 2014 | Forensic science international. Genetics |
| 24809478 | Implications of the admixture process in skin color molecular assessment. | Cerqueira CC et al. | 2014 | PloS one |
| 24880832 | Collaborative EDNAP exercise on the IrisPlex system for DNA-based prediction of human eye colour. | Chaitanya L et al. | 2014 | Forensic science international. Genetics |
| 24926819 | Increased risk of developing cutaneous malignant melanoma is associated with variation in pigmentation genes and VDR, and may involve epistatic effects. | Kosiniak-Kamysz A et al. | 2014 | Melanoma research |
| 25077817 | Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions. | Barrett JH et al. | 2015 | International journal of cancer |
| 25093503 | The interplay between natural selection and susceptibility to melanoma on allele 374F of SLC45A2 gene in a South European population. | López S et al. | 2014 | PloS one |
| 25887915 | Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan. | Ilyas M et al. | 2015 | BMC genomics |
| 26547235 | Crowdsourced direct-to-consumer genomic analysis of a family quartet. | Corpas M et al. | 2015 | BMC genomics |
| 26595274 | Genome-wide patterns of selection in 230 ancient Eurasians. | Mathieson I et al. | 2015 | Nature |
| 26690364 | Genetic differences among ethnic groups. | Huang T 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 |
| 26918427 | Association of genetic variants with skin pigmentation phenotype among populations of west Maharashtra, India. | Jonnalagadda M et al. | 2016 | American journal of human biology |
| 26921301 | Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes. | Tiosano D et al. | 2016 | G3 (Bethesda, Md.) |
| 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 |
| 26938746 | Pigmentary Markers in Danes--Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome. | Johansen P et al. | 2016 | PloS one |
| 26988143 | Human adaptation and population differentiation in the light of ancient genomes. | Key FM et al. | 2016 | Nature communications |
| 26998216 | Sex-specific genetic effects associated with pigmentation, sensitivity to sunlight, and melanoma in a population of Spanish origin. | Hernando B et al. | 2016 | Biology of sex differences |
| 27135931 | The genetic history of Ice Age Europe. | Fu Q et al. | 2016 | Nature |
| 27221533 | Further evidence for population specific differences in the effect of DNA markers and gender on eye colour prediction in forensics. | Pośpiech E et al. | 2016 | International journal of legal medicine |
| 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 |
| 27424798 | Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma. | Chahal HS et al. | 2016 | Nature communications |
| 27435525 | Quantitative assessment of skin, hair, and iris variation in a diverse sample of individuals and associated genetic variation. | Norton HL et al. | 2016 | American journal of physical anthropology |
| 27468418 | Importance of nonsynonymous OCA2 variants in human eye color prediction. | Andersen JD et al. | 2016 | Molecular genetics & genomic medicine |
| 27502179 | The genetics of an early Neolithic pastoralist from the Zagros, Iran. | Gallego-Llorente M et al. | 2016 | Scientific reports |
| 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 |
| 27760139 | Local Adaptation of Sun-Exposure-Dependent Gene Expression Regulation in Human Skin. | Kita R et al. | 2016 | PLoS genetics |
| 28242083 | Association of five SNPs with human hair colour in the Polish population. | Siewierska-Górska A et al. | 2017 | Homo |
| 28300201 | Identification of a novel locus associated with skin colour in African-admixed populations. | Hernandez-Pacheco N et al. | 2017 | Scientific reports |
| 28457509 | Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil. | Fracasso NCA et al. | 2017 | Legal medicine (Tokyo, Japan) |
| 29518100 | Associations between sun sensitive pigmentary genes and serum prostate specific antigen levels. | Nair-Shalliker V et al. | 2018 | PloS one |
| 29974532 | Genetic variants associated with skin photosensitivity in a southern European population from Spain. | Hernando B et al. | 2018 | Photodermatology, photoimmunology & photomedicine |
| 31315583 | Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations. | Lona-Durazo F et al. | 2019 | BMC genetics |
| 32169032 | Distribution of variants in multiple vitamin D-related loci (DHCR7/NADSYN1, GC, CYP2R1, CYP11A1, CYP24A1, VDR, RXRα and RXRγ) vary between European, East-Asian and Sub-Saharan African-ancestry populations. | Jones P et al. | 2020 | Genes & nutrition |
| 33167923 | Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil. | Reis LB et al. | 2020 | BMC cancer |
| 33692100 | Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color. | Simcoe M et al. | 2021 | Science advances |
| 34068188 | Analysis of Skin Pigmentation and Genetic Ancestry in Three Subpopulations from Pakistan: Punjabi, Pashtun, and Baloch. | Shan MA et al. | 2021 | Genes |
| 34071952 | Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set. | Meyer OS et al. | 2021 | Genes |
| 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 |
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.