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.
rs1426654
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr15:48134287 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- A>G / A>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.068875 (21666/314568, ALFA)G=0.229958 (57776/251246, GnomAD_exome)G=0.297745 (41704/140066, GnomAD) (+ 22 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
-
SLC24A5 : Missense VariantMYEF2 : 500B Downstream Variant
- Publications
- 59 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 | 330964 | A=0.922043 | G=0.077957 |
| European | Sub | 278178 | A=0.996491 | G=0.003509 |
| African | Sub | 15868 | A=0.22416 | G=0.77584 |
| African Others | Sub | 564 | A=0.048 | G=0.952 |
| African American | Sub | 15304 | A=0.23066 | G=0.76934 |
| Asian | Sub | 6746 | A=0.0111 | G=0.9889 |
| East Asian | Sub | 4846 | A=0.0099 | G=0.9901 |
| Other Asian | Sub | 1900 | A=0.0142 | G=0.9858 |
| Latin American 1 | Sub | 1274 | A=0.7166 | G=0.2834 |
| Latin American 2 | Sub | 1846 | A=0.6083 | G=0.3917 |
| South Asian | Sub | 5214 | A=0.8404 | G=0.1596 |
| Other | Sub | 21838 | A=0.82018 | G=0.17982 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 314568 | A=0.931125 | G=0.068875 |
| Allele Frequency Aggregator | European | Sub | 268040 | A=0.996474 | G=0.003526 |
| Allele Frequency Aggregator | Other | Sub | 20406 | A=0.81770 | G=0.18230 |
| Allele Frequency Aggregator | African | Sub | 11042 | A=0.23800 | G=0.76200 |
| Allele Frequency Aggregator | Asian | Sub | 6746 | A=0.0111 | G=0.9889 |
| Allele Frequency Aggregator | South Asian | Sub | 5214 | A=0.8404 | G=0.1596 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 1846 | A=0.6083 | G=0.3917 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1274 | A=0.7166 | G=0.2834 |
| gnomAD - Exomes | Global | Study-wide | 251246 | A=0.770042 | G=0.229958 |
| gnomAD - Exomes | European | Sub | 135254 | A=0.995098 | G=0.004902 |
| gnomAD - Exomes | Asian | Sub | 48990 | A=0.48669 | G=0.51331 |
| gnomAD - Exomes | American | Sub | 34554 | A=0.47887 | G=0.52113 |
| gnomAD - Exomes | African | Sub | 16240 | A=0.18904 | G=0.81096 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10076 | A=0.99563 | G=0.00437 |
| gnomAD - Exomes | Other | Sub | 6132 | A=0.8785 | G=0.1215 |
| gnomAD - Genomes | Global | Study-wide | 140066 | A=0.702255 | G=0.297745 |
| gnomAD - Genomes | European | Sub | 75918 | A=0.99505 | G=0.00495 |
| gnomAD - Genomes | African | Sub | 41940 | A=0.20737 | G=0.79263 |
| gnomAD - Genomes | American | Sub | 13614 | A=0.67871 | G=0.32129 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | A=0.9973 | G=0.0027 |
| gnomAD - Genomes | East Asian | Sub | 3126 | A=0.0125 | G=0.9875 |
| gnomAD - Genomes | Other | Sub | 2146 | A=0.7134 | G=0.2866 |
| ExAC | Global | Study-wide | 121320 | A=0.771736 | G=0.228264 |
| ExAC | Europe | Sub | 73314 | A=0.99504 | G=0.00496 |
| ExAC | Asian | Sub | 25158 | A=0.50767 | G=0.49233 |
| ExAC | American | Sub | 11538 | A=0.43803 | G=0.56197 |
| ExAC | African | Sub | 10402 | A=0.19881 | G=0.80119 |
| ExAC | Other | Sub | 908 | A=0.862 | G=0.138 |
| The PAGE Study | Global | Study-wide | 78700 | A=0.37090 | G=0.62910 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | A=0.22733 | G=0.77267 |
| The PAGE Study | Mexican | Sub | 10810 | A=0.53414 | G=0.46586 |
| The PAGE Study | Asian | Sub | 8318 | A=0.0130 | G=0.9870 |
| The PAGE Study | PuertoRican | Sub | 7918 | A=0.6652 | G=0.3348 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | A=0.2644 | G=0.7356 |
| The PAGE Study | Cuban | Sub | 4230 | A=0.8265 | G=0.1735 |
| The PAGE Study | Dominican | Sub | 3828 | A=0.5585 | G=0.4415 |
| The PAGE Study | CentralAmerican | Sub | 2450 | A=0.4771 | G=0.5229 |
| The PAGE Study | SouthAmerican | Sub | 1980 | A=0.5525 | G=0.4475 |
| The PAGE Study | NativeAmerican | Sub | 1260 | A=0.6984 | G=0.3016 |
| The PAGE Study | SouthAsian | Sub | 856 | A=0.786 | G=0.214 |
| 14KJPN | JAPANESE | Study-wide | 28258 | A=0.00251 | G=0.99749 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.00239 | G=0.99761 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.4338 | G=0.5662 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.0677 | G=0.9323 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.9976 | G=0.0024 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.6739 | G=0.3261 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=0.0111 | G=0.9889 |
| 1000Genomes_30x | American | Sub | 980 | A=0.583 | G=0.417 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.4377 | G=0.5623 |
| 1000Genomes | African | Sub | 1322 | A=0.0741 | G=0.9259 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.0119 | G=0.9881 |
| 1000Genomes | Europe | Sub | 1006 | A=0.9970 | G=0.0030 |
| 1000Genomes | South Asian | Sub | 978 | A=0.685 | G=0.315 |
| 1000Genomes | American | Sub | 694 | A=0.589 | G=0.411 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.9935 | G=0.0065 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.9948 | G=0.0052 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.9978 | G=0.0022 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.0055 | G=0.9945 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.0055 | G=0.9945 |
| HapMap | Global | Study-wide | 1782 | A=0.3664 | G=0.6336 |
| HapMap | African | Sub | 692 | A=0.158 | G=0.842 |
| HapMap | American | Sub | 660 | A=0.550 | G=0.450 |
| HapMap | Asian | Sub | 254 | A=0.024 | G=0.976 |
| HapMap | Europe | Sub | 176 | A=0.994 | G=0.006 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1132 | A=0.9037 | G=0.0963 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | A=0.981 | G=0.019 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | A=0.958 | G=0.042 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 118 | A=0.653 | G=0.347 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | A=0.972 | G=0.028 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | A=0.52 | G=0.48 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | A=1.00 | G=0.00 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 790 | A=0.035 | G=0.965 |
| CNV burdens in cranial meningiomas | CRM | Sub | 790 | A=0.035 | G=0.965 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 612 | A=0.015 | G=0.985 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.990 | G=0.010 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | A=0.970 | G=0.030 |
| SGDP_PRJ | Global | Study-wide | 348 | A=0.101 | G=0.899 |
| Qatari | Global | Study-wide | 216 | A=0.824 | G=0.176 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 70 | A=1.00 | G=0.00 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.97 | G=0.03 |
| Siberian | Global | Study-wide | 14 | A=0.43 | G=0.57 |
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 15 | NC_000015.10:g.48134287A>G |
| GRCh38.p14 chr 15 | NC_000015.10:g.48134287A>T |
| GRCh37.p13 chr 15 | NC_000015.9:g.48426484A>G |
| GRCh37.p13 chr 15 | NC_000015.9:g.48426484A>T |
| SLC24A5 RefSeqGene | NG_011500.1:g.18316A>G |
| SLC24A5 RefSeqGene | NG_011500.1:g.18316A>T |
Gene: MYEF2, myelin expression factor 2
(minus strand)
:
500B Downstream Variant
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| MYEF2 transcript variant 2 | NM_001301210.2:c. | N/A | Downstream Transcript Variant |
| MYEF2 transcript variant 1 | NM_016132.5:c. | N/A | Downstream Transcript Variant |
| MYEF2 transcript variant 3 | NR_125408.2:n. | N/A | N/A |
| MYEF2 transcript variant X1 | XM_005254422.5:c. | N/A | Downstream Transcript Variant |
| MYEF2 transcript variant X2 | XM_005254424.5:c. | N/A | Downstream Transcript Variant |
| MYEF2 transcript variant X3 | XM_005254425.5:c. | N/A | Downstream Transcript Variant |
| MYEF2 transcript variant X8 | XM_011521657.3:c. | N/A | Downstream Transcript Variant |
| MYEF2 transcript variant X4 | XM_017022285.2:c. | N/A | Downstream Transcript Variant |
| MYEF2 transcript variant X5 | XM_017022286.2:c. | N/A | Downstream Transcript Variant |
| MYEF2 transcript variant X6 | XM_017022287.2:c. | N/A | Downstream Transcript Variant |
| MYEF2 transcript variant X7 | XM_047432635.1:c. | N/A | Downstream Transcript Variant |
| MYEF2 transcript variant X9 | XM_047432636.1:c. | N/A | Downstream Transcript Variant |
| MYEF2 transcript variant X10 | XM_005254427.5:c. | N/A | N/A |
Gene: SLC24A5, solute carrier family 24 member 5
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| SLC24A5 transcript | NM_205850.3:c.331A>G | T [ACA] > A [GCA] | Coding Sequence Variant |
| sodium/potassium/calcium exchanger 5 precursor | NP_995322.1:p.Thr111Ala | T (Thr) > A (Ala) | Missense Variant |
| SLC24A5 transcript | NM_205850.3:c.331A>T | T [ACA] > S [TCA] | Coding Sequence Variant |
| sodium/potassium/calcium exchanger 5 precursor | NP_995322.1:p.Thr111Ser | T (Thr) > S (Ser) | Missense Variant |
| SLC24A5 transcript variant X2 | XM_024449901.2:c.-9= | N/A | 5 Prime UTR Variant |
| SLC24A5 transcript variant X3 | XM_047432395.1:c.-9= | N/A | 5 Prime UTR Variant |
| SLC24A5 transcript variant X1 | XM_047432394.1:c.331A>G | T [ACA] > A [GCA] | Coding Sequence Variant |
| sodium/potassium/calcium exchanger 5 isoform X1 | XP_047288350.1:p.Thr111Ala | T (Thr) > A (Ala) | Missense Variant |
| SLC24A5 transcript variant X1 | XM_047432394.1:c.331A>T | T [ACA] > S [TCA] | Coding Sequence Variant |
| sodium/potassium/calcium exchanger 5 isoform X1 | XP_047288350.1:p.Thr111Ser | T (Thr) > S (Ser) | 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: A= (allele ID:
16526
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000001552.7 | Skin/hair/eye pigmentation, variation in, 4 | Association |
Allele: G (allele ID:
255247
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000250857.1 | not specified | Benign |
| RCV001723865.4 | not provided | Benign |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | A= | G | T |
|---|---|---|---|
| GRCh38.p14 chr 15 | NC_000015.10:g.48134287= | NC_000015.10:g.48134287A>G | NC_000015.10:g.48134287A>T |
| GRCh37.p13 chr 15 | NC_000015.9:g.48426484= | NC_000015.9:g.48426484A>G | NC_000015.9:g.48426484A>T |
| SLC24A5 RefSeqGene | NG_011500.1:g.18316= | NG_011500.1:g.18316A>G | NG_011500.1:g.18316A>T |
| SLC24A5 transcript | NM_205850.3:c.331= | NM_205850.3:c.331A>G | NM_205850.3:c.331A>T |
| SLC24A5 transcript | NM_205850.2:c.331= | NM_205850.2:c.331A>G | NM_205850.2:c.331A>T |
| SLC24A5 transcript variant X2 | XM_024449901.2:c.-9= | XM_024449901.2:c.-9A>G | XM_024449901.2:c.-9A>T |
| SLC24A5 transcript variant X3 | XM_024449901.1:c.-9= | XM_024449901.1:c.-9A>G | XM_024449901.1:c.-9A>T |
| SLC24A5 transcript variant X1 | XM_047432394.1:c.331= | XM_047432394.1:c.331A>G | XM_047432394.1:c.331A>T |
| SLC24A5 transcript variant X3 | XM_047432395.1:c.-9= | XM_047432395.1:c.-9A>G | XM_047432395.1:c.-9A>T |
| sodium/potassium/calcium exchanger 5 precursor | NP_995322.1:p.Thr111= | NP_995322.1:p.Thr111Ala | NP_995322.1:p.Thr111Ser |
| sodium/potassium/calcium exchanger 5 isoform X1 | XP_047288350.1:p.Thr111= | XP_047288350.1:p.Thr111Ala | XP_047288350.1:p.Thr111Ser |
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#.
155 SubSNP,
25 Frequency,
3 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | TSC-CSHL | ss2233714 | Oct 23, 2000 (88) |
| 2 | SC_JCM | ss3462402 | Sep 28, 2001 (100) |
| 3 | WI_SSAHASNP | ss12321463 | Jul 11, 2003 (116) |
| 4 | CSHL-HAPMAP | ss19327142 | Feb 27, 2004 (120) |
| 5 | ABI | ss43742806 | Mar 14, 2006 (126) |
| 6 | ILLUMINA | ss65725648 | Oct 14, 2006 (127) |
| 7 | PERLEGEN | ss69175592 | May 17, 2007 (127) |
| 8 | PERLEGEN | ss69356387 | May 17, 2007 (127) |
| 9 | AFFY | ss74806079 | Aug 16, 2007 (128) |
| 10 | ILLUMINA | ss74865056 | Dec 06, 2007 (129) |
| 11 | HGSV | ss80703511 | Dec 14, 2007 (130) |
| 12 | HGSV | ss83526066 | Dec 14, 2007 (130) |
| 13 | HGSV | ss85617502 | Dec 14, 2007 (130) |
| 14 | BGI | ss106427081 | Feb 04, 2009 (130) |
| 15 | 1000GENOMES | ss114135170 | Jan 25, 2009 (130) |
| 16 | ILLUMINA-UK | ss118216307 | Feb 14, 2009 (130) |
| 17 | KRIBB_YJKIM | ss119392172 | Dec 01, 2009 (131) |
| 18 | ILLUMINA | ss153430106 | Dec 01, 2009 (131) |
| 19 | GMI | ss156507260 | Dec 01, 2009 (131) |
| 20 | ILLUMINA | ss159268497 | Dec 01, 2009 (131) |
| 21 | SEATTLESEQ | ss159730646 | Dec 01, 2009 (131) |
| 22 | ILLUMINA | ss160351692 | Dec 01, 2009 (131) |
| 23 | ENSEMBL | ss161717571 | Dec 01, 2009 (131) |
| 24 | COMPLETE_GENOMICS | ss169373884 | Jul 04, 2010 (132) |
| 25 | ILLUMINA | ss172493002 | Jul 04, 2010 (132) |
| 26 | BUSHMAN | ss200810996 | Jul 04, 2010 (132) |
| 27 | 1000GENOMES | ss226879145 | Jul 14, 2010 (132) |
| 28 | 1000GENOMES | ss243156808 | Jul 15, 2010 (132) |
| 29 | OMICIA | ss244239384 | May 27, 2010 (132) |
| 30 | OMIM-CURATED-RECORDS | ss252841619 | Aug 10, 2010 (132) |
| 31 | GMI | ss282244690 | May 04, 2012 (137) |
| 32 | PJP | ss291715106 | May 09, 2011 (134) |
| 33 | NHLBI-ESP | ss342403033 | May 09, 2011 (134) |
| 34 | ILLUMINA | ss479969658 | May 04, 2012 (137) |
| 35 | ILLUMINA | ss479978177 | May 04, 2012 (137) |
| 36 | ILLUMINA | ss480624669 | Sep 08, 2015 (146) |
| 37 | ILLUMINA | ss483399039 | May 04, 2012 (137) |
| 38 | ILLUMINA | ss483811277 | May 04, 2012 (137) |
| 39 | ILLUMINA | ss484783062 | May 04, 2012 (137) |
| 40 | 1000GENOMES | ss491082614 | May 04, 2012 (137) |
| 41 | EXOME_CHIP | ss491494238 | May 04, 2012 (137) |
| 42 | CLINSEQ_SNP | ss491700325 | May 04, 2012 (137) |
| 43 | ILLUMINA | ss536008829 | Sep 08, 2015 (146) |
| 44 | TISHKOFF | ss564465609 | Apr 25, 2013 (138) |
| 45 | SSMP | ss660185488 | Apr 25, 2013 (138) |
| 46 | ILLUMINA | ss780662471 | Aug 21, 2014 (142) |
| 47 | ILLUMINA | ss780708416 | Sep 08, 2015 (146) |
| 48 | ILLUMINA | ss782349211 | Aug 21, 2014 (142) |
| 49 | ILLUMINA | ss782838198 | Aug 21, 2014 (142) |
| 50 | ILLUMINA | ss783383123 | Sep 08, 2015 (146) |
| 51 | ILLUMINA | ss832091835 | Apr 01, 2015 (144) |
| 52 | ILLUMINA | ss832780686 | Aug 21, 2014 (142) |
| 53 | ILLUMINA | ss833371516 | Aug 21, 2014 (142) |
| 54 | ILLUMINA | ss836157994 | Aug 21, 2014 (142) |
| 55 | JMKIDD_LAB | ss974491187 | Aug 21, 2014 (142) |
| 56 | JMKIDD_LAB | ss1067552258 | Aug 21, 2014 (142) |
| 57 | JMKIDD_LAB | ss1080104198 | Aug 21, 2014 (142) |
| 58 | 1000GENOMES | ss1353359076 | Aug 21, 2014 (142) |
| 59 | HAMMER_LAB | ss1397696331 | Sep 08, 2015 (146) |
| 60 | DDI | ss1427617465 | Apr 01, 2015 (144) |
| 61 | EVA_GENOME_DK | ss1577598398 | Apr 01, 2015 (144) |
| 62 | EVA_UK10K_ALSPAC | ss1632940740 | Apr 01, 2015 (144) |
| 63 | EVA_UK10K_TWINSUK | ss1675934773 | Apr 01, 2015 (144) |
| 64 | EVA_EXAC | ss1691816713 | Apr 01, 2015 (144) |
| 65 | EVA_DECODE | ss1695775524 | Apr 01, 2015 (144) |
| 66 | EVA_MGP | ss1711396744 | Apr 01, 2015 (144) |
| 67 | EVA_SVP | ss1713487778 | Apr 01, 2015 (144) |
| 68 | ILLUMINA | ss1752161861 | Sep 08, 2015 (146) |
| 69 | ILLUMINA | ss1752161862 | Sep 08, 2015 (146) |
| 70 | HAMMER_LAB | ss1808191813 | Sep 08, 2015 (146) |
| 71 | ILLUMINA | ss1917896187 | Feb 12, 2016 (147) |
| 72 | WEILL_CORNELL_DGM | ss1935163453 | Feb 12, 2016 (147) |
| 73 | ILLUMINA | ss1946393010 | Feb 12, 2016 (147) |
| 74 | ILLUMINA | ss1959610755 | Feb 12, 2016 (147) |
| 75 | AMU | ss1966652327 | Feb 12, 2016 (147) |
| 76 | GENOMED | ss1968099881 | Jul 19, 2016 (147) |
| 77 | JJLAB | ss2028360854 | Sep 14, 2016 (149) |
| 78 | ILLUMINA | ss2095058734 | Dec 20, 2016 (150) |
| 79 | USC_VALOUEV | ss2156761954 | Dec 20, 2016 (150) |
| 80 | HUMAN_LONGEVITY | ss2206557232 | Dec 20, 2016 (150) |
| 81 | SYSTEMSBIOZJU | ss2628674351 | Nov 08, 2017 (151) |
| 82 | ILLUMINA | ss2633225548 | Nov 08, 2017 (151) |
| 83 | ILLUMINA | ss2633225549 | Nov 08, 2017 (151) |
| 84 | ILLUMINA | ss2635057786 | Nov 08, 2017 (151) |
| 85 | GRF | ss2701230558 | Nov 08, 2017 (151) |
| 86 | GNOMAD | ss2741226933 | Nov 08, 2017 (151) |
| 87 | GNOMAD | ss2749299631 | Nov 08, 2017 (151) |
| 88 | GNOMAD | ss2934602423 | Nov 08, 2017 (151) |
| 89 | AFFY | ss2985040843 | Nov 08, 2017 (151) |
| 90 | SWEGEN | ss3013239916 | Nov 08, 2017 (151) |
| 91 | ILLUMINA | ss3021630707 | Nov 08, 2017 (151) |
| 92 | ILLUMINA | ss3625672860 | Oct 12, 2018 (152) |
| 93 | ILLUMINA | ss3627354859 | Oct 12, 2018 (152) |
| 94 | ILLUMINA | ss3627354860 | Oct 12, 2018 (152) |
| 95 | ILLUMINA | ss3631218832 | Oct 12, 2018 (152) |
| 96 | ILLUMINA | ss3633096461 | Oct 12, 2018 (152) |
| 97 | ILLUMINA | ss3633801037 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3634605426 | Oct 12, 2018 (152) |
| 99 | ILLUMINA | ss3634605427 | Oct 12, 2018 (152) |
| 100 | ILLUMINA | ss3635489974 | Oct 12, 2018 (152) |
| 101 | ILLUMINA | ss3636295334 | Oct 12, 2018 (152) |
| 102 | ILLUMINA | ss3637241240 | Oct 12, 2018 (152) |
| 103 | ILLUMINA | ss3638084024 | Oct 12, 2018 (152) |
| 104 | ILLUMINA | ss3640312747 | Oct 12, 2018 (152) |
| 105 | ILLUMINA | ss3640312748 | Oct 12, 2018 (152) |
| 106 | ILLUMINA | ss3641060096 | Oct 12, 2018 (152) |
| 107 | ILLUMINA | ss3641355454 | Oct 12, 2018 (152) |
| 108 | ILLUMINA | ss3643068334 | Oct 12, 2018 (152) |
| 109 | ILLUMINA | ss3644646112 | Oct 12, 2018 (152) |
| 110 | OMUKHERJEE_ADBS | ss3646474137 | Oct 12, 2018 (152) |
| 111 | ILLUMINA | ss3652031152 | Oct 12, 2018 (152) |
| 112 | ILLUMINA | ss3652031153 | Oct 12, 2018 (152) |
| 113 | ILLUMINA | ss3653812396 | Oct 12, 2018 (152) |
| 114 | EGCUT_WGS | ss3680380453 | Jul 13, 2019 (153) |
| 115 | EVA_DECODE | ss3697841057 | Jul 13, 2019 (153) |
| 116 | ILLUMINA | ss3725497402 | Jul 13, 2019 (153) |
| 117 | ACPOP | ss3740900446 | Jul 13, 2019 (153) |
| 118 | ILLUMINA | ss3744419943 | Jul 13, 2019 (153) |
| 119 | ILLUMINA | ss3744905961 | Jul 13, 2019 (153) |
| 120 | ILLUMINA | ss3744905962 | Jul 13, 2019 (153) |
| 121 | EVA | ss3753051978 | Jul 13, 2019 (153) |
| 122 | PAGE_CC | ss3771828387 | Jul 13, 2019 (153) |
| 123 | ILLUMINA | ss3772404617 | Jul 13, 2019 (153) |
| 124 | ILLUMINA | ss3772404618 | Jul 13, 2019 (153) |
| 125 | KHV_HUMAN_GENOMES | ss3818370557 | Jul 13, 2019 (153) |
| 126 | EVA | ss3824917078 | Apr 27, 2020 (154) |
| 127 | EVA | ss3825858627 | Apr 27, 2020 (154) |
| 128 | EVA | ss3834221316 | Apr 27, 2020 (154) |
| 129 | SGDP_PRJ | ss3882862516 | Apr 27, 2020 (154) |
| 130 | KRGDB | ss3932020899 | Apr 27, 2020 (154) |
| 131 | KOGIC | ss3976088412 | Apr 27, 2020 (154) |
| 132 | FSA-LAB | ss3984072668 | Apr 27, 2021 (155) |
| 133 | EVA | ss3984700869 | Apr 27, 2021 (155) |
| 134 | EVA | ss3985714929 | Apr 27, 2021 (155) |
| 135 | EVA | ss3986067183 | Apr 27, 2021 (155) |
| 136 | EVA | ss3986647412 | Apr 27, 2021 (155) |
| 137 | TOMMO_GENOMICS | ss5216071389 | Apr 27, 2021 (155) |
| 138 | EVA | ss5236923664 | Apr 27, 2021 (155) |
| 139 | EVA | ss5237664081 | Oct 16, 2022 (156) |
| 140 | 1000G_HIGH_COVERAGE | ss5298350907 | Oct 16, 2022 (156) |
| 141 | TRAN_CS_UWATERLOO | ss5314441118 | Oct 16, 2022 (156) |
| 142 | EVA | ss5315781915 | Oct 16, 2022 (156) |
| 143 | EVA | ss5419070640 | Oct 16, 2022 (156) |
| 144 | HUGCELL_USP | ss5492089279 | Oct 16, 2022 (156) |
| 145 | 1000G_HIGH_COVERAGE | ss5599708869 | Oct 16, 2022 (156) |
| 146 | SANFORD_IMAGENETICS | ss5624359763 | Oct 16, 2022 (156) |
| 147 | SANFORD_IMAGENETICS | ss5657458389 | Oct 16, 2022 (156) |
| 148 | TOMMO_GENOMICS | ss5769842497 | Oct 16, 2022 (156) |
| 149 | YY_MCH | ss5815310075 | Oct 16, 2022 (156) |
| 150 | EVA | ss5828166914 | Oct 16, 2022 (156) |
| 151 | EVA | ss5847741938 | Oct 16, 2022 (156) |
| 152 | EVA | ss5848401493 | Oct 16, 2022 (156) |
| 153 | EVA | ss5851281888 | Oct 16, 2022 (156) |
| 154 | EVA | ss5875770796 | Oct 16, 2022 (156) |
| 155 | EVA | ss5948856673 | Oct 16, 2022 (156) |
| 156 | 1000Genomes | NC_000015.9 - 48426484 | Oct 12, 2018 (152) |
| 157 | 1000Genomes_30x | NC_000015.10 - 48134287 | Oct 16, 2022 (156) |
| 158 | The Avon Longitudinal Study of Parents and Children | NC_000015.9 - 48426484 | Oct 12, 2018 (152) |
| 159 | Genome-wide autozygosity in Daghestan | NC_000015.8 - 46213776 | Apr 27, 2020 (154) |
| 160 | Genetic variation in the Estonian population | NC_000015.9 - 48426484 | Oct 12, 2018 (152) |
| 161 | ExAC | NC_000015.9 - 48426484 | Oct 12, 2018 (152) |
| 162 | The Danish reference pan genome | NC_000015.9 - 48426484 | Apr 27, 2020 (154) |
| 163 | gnomAD - Genomes | NC_000015.10 - 48134287 | Apr 27, 2021 (155) |
| 164 | gnomAD - Exomes | NC_000015.9 - 48426484 | Jul 13, 2019 (153) |
| 165 | HapMap | NC_000015.10 - 48134287 | Apr 27, 2020 (154) |
| 166 | KOREAN population from KRGDB | NC_000015.9 - 48426484 | Apr 27, 2020 (154) |
| 167 | Korean Genome Project | NC_000015.10 - 48134287 | Apr 27, 2020 (154) |
| 168 | Medical Genome Project healthy controls from Spanish population | NC_000015.9 - 48426484 | Apr 27, 2020 (154) |
| 169 | Northern Sweden | NC_000015.9 - 48426484 | Jul 13, 2019 (153) |
| 170 | The PAGE Study | NC_000015.10 - 48134287 | Jul 13, 2019 (153) |
| 171 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000015.9 - 48426484 | Apr 27, 2021 (155) |
| 172 | CNV burdens in cranial meningiomas | NC_000015.9 - 48426484 | Apr 27, 2021 (155) |
| 173 | Qatari | NC_000015.9 - 48426484 | Apr 27, 2020 (154) |
| 174 | SGDP_PRJ | NC_000015.9 - 48426484 | Apr 27, 2020 (154) |
| 175 | Siberian | NC_000015.9 - 48426484 | Apr 27, 2020 (154) |
| 176 | 8.3KJPN | NC_000015.9 - 48426484 | Apr 27, 2021 (155) |
| 177 | 14KJPN | NC_000015.10 - 48134287 | Oct 16, 2022 (156) |
| 178 | UK 10K study - Twins | NC_000015.9 - 48426484 | Oct 12, 2018 (152) |
| 179 | A Vietnamese Genetic Variation Database | NC_000015.9 - 48426484 | Jul 13, 2019 (153) |
| 180 | ALFA | NC_000015.10 - 48134287 | Apr 27, 2021 (155) |
| 181 | ClinVar | RCV000001552.7 | Oct 16, 2022 (156) |
| 182 | ClinVar | RCV000250857.1 | Oct 12, 2018 (152) |
| 183 | ClinVar | RCV001723865.4 | 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) |
|---|---|
| rs52802038 | Sep 21, 2007 (128) |
| rs58147390 | May 24, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 166506, ss80703511, ss83526066, ss85617502, ss114135170, ss118216307, ss160351692, ss169373884, ss200810996, ss282244690, ss291715106, ss479969658, ss483399039, ss491700325, ss1397696331, ss1695775524, ss1713487778, ss2635057786, ss3643068334 | NC_000015.8:46213775:A:G | NC_000015.10:48134286:A:G | (self) |
| 66427133, 36873604, 26118701, 2189420, 3845125, 10492098, 39198293, 512504, 14185311, 940856, 250391, 17205383, 34879496, 9278308, 74040696, 36873604, 8202797, ss226879145, ss243156808, ss342403033, ss479978177, ss480624669, ss483811277, ss484783062, ss491082614, ss491494238, ss536008829, ss564465609, ss660185488, ss780662471, ss780708416, ss782349211, ss782838198, ss783383123, ss832091835, ss832780686, ss833371516, ss836157994, ss974491187, ss1067552258, ss1080104198, ss1353359076, ss1427617465, ss1577598398, ss1632940740, ss1675934773, ss1691816713, ss1711396744, ss1752161861, ss1752161862, ss1808191813, ss1917896187, ss1935163453, ss1946393010, ss1959610755, ss1966652327, ss1968099881, ss2028360854, ss2095058734, ss2156761954, ss2628674351, ss2633225548, ss2633225549, ss2701230558, ss2741226933, ss2749299631, ss2934602423, ss2985040843, ss3013239916, ss3021630707, ss3625672860, ss3627354859, ss3627354860, ss3631218832, ss3633096461, ss3633801037, ss3634605426, ss3634605427, ss3635489974, ss3636295334, ss3637241240, ss3638084024, ss3640312747, ss3640312748, ss3641060096, ss3641355454, ss3644646112, ss3646474137, ss3652031152, ss3652031153, ss3653812396, ss3680380453, ss3740900446, ss3744419943, ss3744905961, ss3744905962, ss3753051978, ss3772404617, ss3772404618, ss3824917078, ss3825858627, ss3834221316, ss3882862516, ss3932020899, ss3984072668, ss3984700869, ss3985714929, ss3986067183, ss3986647412, ss5216071389, ss5315781915, ss5419070640, ss5624359763, ss5657458389, ss5828166914, ss5847741938, ss5848401493, ss5948856673 | NC_000015.9:48426483:A:G | NC_000015.10:48134286:A:G | (self) |
| RCV000250857.1, RCV001723865.4, 87234804, 468295317, 1258118, 32466413, 1049856, 103679601, 4629412389, ss244239384, ss252841619, ss2206557232, ss3697841057, ss3725497402, ss3771828387, ss3818370557, ss3976088412, ss5236923664, ss5237664081, ss5298350907, ss5314441118, ss5492089279, ss5599708869, ss5769842497, ss5815310075, ss5851281888, ss5875770796 | NC_000015.10:48134286:A:G | NC_000015.10:48134286:A:G | (self) |
| ss12321463 | NT_010194.15:19216094:A:G | NC_000015.10:48134286:A:G | (self) |
| ss19327142 | NT_010194.16:19217040:A:G | NC_000015.10:48134286:A:G | (self) |
| ss2233714, ss3462402, ss43742806, ss65725648, ss69175592, ss69356387, ss74806079, ss74865056, ss106427081, ss119392172, ss153430106, ss156507260, ss159268497, ss159730646, ss161717571, ss172493002 | NT_010194.17:19217040:A:G | NC_000015.10:48134286:A:G | (self) |
| ss2206557232 | NC_000015.10:48134286:A:T | NC_000015.10:48134286:A:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
59
citations for rs1426654
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 16255080 | A haplotype map of the human genome. | 2005 | Nature | |
| 16357253 | SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. | Lamason RL et al. | 2005 | Science (New York, N.Y.) |
| 17557415 | A genomewide single-nucleotide-polymorphism panel for Mexican American admixture mapping. | Tian C et al. | 2007 | American journal 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 |
| 18248681 | Prevalence of common disease-associated variants in Asian Indians. | Pemberton TJ et al. | 2008 | BMC genetics |
| 18282109 | Adaptations to climate in candidate genes for common metabolic disorders. | Hancock AM et al. | 2008 | PLoS genetics |
| 18637132 | A study of a single variant allele (rs1426654) of the pigmentation-related gene SLC24A5 in Greek subjects. | Dimisianos G et al. | 2009 | Experimental 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 |
| 19503611 | The role of geography in human adaptation. | Coop G et al. | 2009 | PLoS genetics |
| 19737746 | Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation. | Xue Y et al. | 2009 | Genetics |
| 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 |
| 19944766 | A pilot multivariate parallel ICA study to investigate differential linkage between neural networks and genetic profiles in schizophrenia. | Meda SA et al. | 2010 | NeuroImage |
| 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 |
| 20691427 | Genetic associations of brain structural networks in schizophrenia: a preliminary study. | Jagannathan K et al. | 2010 | Biological psychiatry |
| 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 |
| 21498954 | Genetic heterogeneity of self-reported ancestry groups in an admixed Brazilian population. | Lins TC et al. | 2011 | Journal of epidemiology |
| 21589938 | Targeted assembly of short sequence reads. | Warren RL et al. | 2011 | PloS one |
| 21611176 | Validation of a cost-efficient multi-purpose SNP panel for disease based research. | Hou L et al. | 2011 | PloS one |
| 21807602 | Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations. | Zhang G et al. | 2011 | Human genomics |
| 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 |
| 22073278 | Genomic ancestry, self-reported "color" and quantitative measures of skin pigmentation in Brazilian admixed siblings. | Leite TK et al. | 2011 | 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 |
| 23224873 | NCKX5, a natural regulator of human skin colour variation, regulates the expression of key pigment genes MC1R and alpha-MSH and alters cholesterol homeostasis in normal human melanocytes. | Wilson S et al. | 2013 | Advances in experimental medicine and biology |
| 23771755 | Improved eye- and skin-color prediction based on 8 SNPs. | Hart KL et al. | 2013 | Croatian medical journal |
| 24048645 | Molecular phylogeography of a human autosomal skin color locus under natural selection. | Canfield VA et al. | 2013 | G3 (Bethesda, Md.) |
| 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 |
| 25133637 | Genome-wide association studies and heritability estimates of body mass index related phenotypes in Bangladeshi adults. | Scannell Bryan M et al. | 2014 | PloS one |
| 25370040 | Novel genomic signals of recent selection in an Ethiopian population. | Tekola-Ayele F et al. | 2015 | European journal of human genetics |
| 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 |
| 25801600 | SLC24A5 and ASIP as phenotypic predictors in Brazilian population for forensic purposes. | Lima FA et al. | 2015 | Legal medicine (Tokyo, Japan) |
| 26395555 | A minimum set of ancestry informative markers for determining admixture proportions in a mixed American population: the Brazilian set. | Santos HC et al. | 2016 | European journal of human genetics |
| 26690364 | Genetic differences among ethnic groups. | Huang T et al. | 2015 | BMC genomics |
| 26753840 | Ancient DNA and the rewriting of human history: be sparing with Occam's razor. | Haber M et al. | 2016 | Genome biology |
| 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.) |
| 26926045 | A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. | Adhikari K et al. | 2016 | Nature communications |
| 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 |
| 27135931 | The genetic history of Ice Age Europe. | Fu Q et al. | 2016 | Nature |
| 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 |
| 27866970 | Genotype-Phenotype Study of the Middle Gangetic Plain in India Shows Association of rs2470102 with Skin Pigmentation. | Mishra A et al. | 2017 | The Journal of investigative dermatology |
| 28300201 | Identification of a novel locus associated with skin colour in African-admixed populations. | Hernandez-Pacheco N et al. | 2017 | Scientific reports |
| 28984396 | Association of common genetic variants with human skin color variation in Indian populations. | Sarkar A et al. | 2018 | American journal of human biology |
| 29897937 | Four-dimensional, dynamic mosaicism is a hallmark of normal human skin that permits mapping of the organization and patterning of human epidermis during terminal differentiation. | Wang Y et al. | 2018 | PloS one |
| 30099804 | The influences of genes, the environment, and social factors on the evolution of skin color diversity in India. | Iliescu FM et al. | 2018 | American journal of human biology |
| 30895295 | A Genome-Wide Association Study of Skin and Iris Pigmentation among Individuals of South Asian Ancestry. | Jonnalagadda M et al. | 2019 | Genome biology and evolution |
| 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 |
| 33318654 | Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations. | Jorgenson E et al. | 2020 | Communications biology |
| 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 |
| 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 |
| 35197637 | Genetic associations of protein-coding variants in human disease. | Sun BB et al. | 2022 | Nature |
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.