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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.

rs2274159

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:114403966 (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=0.481175 (157428/327174, ALFA)
G=0.406343 (107555/264690, TOPMED)
G=0.481249 (120111/249582, GnomAD_exome) (+ 25 more)
G=0.406235 (56812/139850, GnomAD)
G=0.478564 (58068/121338, ExAC)
G=0.36017 (28329/78654, PAGE_STUDY)
A=0.44829 (12666/28254, 14KJPN)
A=0.44944 (7530/16754, 8.3KJPN)
G=0.41073 (5342/13006, GO-ESP)
G=0.4016 (2572/6404, 1000G_30x)
G=0.4063 (2035/5008, 1000G)
G=0.4279 (1916/4478, Estonian)
A=0.4940 (1904/3854, ALSPAC)
G=0.4892 (1814/3708, TWINSUK)
A=0.4898 (1434/2928, KOREAN)
G=0.4428 (922/2082, HGDP_Stanford)
G=0.4033 (763/1892, HapMap)
A=0.4853 (889/1832, Korea1K)
G=0.478 (477/998, GoNL)
G=0.472 (373/790, PRJEB37584)
G=0.455 (273/600, NorthernSweden)
G=0.380 (203/534, MGP)
A=0.339 (114/336, SGDP_PRJ)
G=0.493 (150/304, FINRISK)
G=0.407 (88/216, Qatari)
A=0.50 (42/84, Ancient Sardinia)
G=0.50 (42/84, Ancient Sardinia)
A=0.27 (13/48, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
WHRN : Missense Variant
Publications
7 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 327390 A=0.518791 G=0.481209, T=0.000000
European Sub 284334 A=0.509566 G=0.490434, T=0.000000
African Sub 10354 A=0.78752 G=0.21248, T=0.00000
African Others Sub 380 A=0.816 G=0.184, T=0.000
African American Sub 9974 A=0.7864 G=0.2136, T=0.0000
Asian Sub 3790 A=0.5551 G=0.4449, T=0.0000
East Asian Sub 3004 A=0.5023 G=0.4977, T=0.0000
Other Asian Sub 786 A=0.757 G=0.243, T=0.000
Latin American 1 Sub 1028 A=0.5739 G=0.4261, T=0.0000
Latin American 2 Sub 6764 A=0.5333 G=0.4667, T=0.0000
South Asian Sub 5136 A=0.4396 G=0.5604, T=0.0000
Other Sub 15984 A=0.51595 G=0.48405, T=0.00000


Help

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 327174 A=0.518825 G=0.481175, T=0.000000
Allele Frequency Aggregator European Sub 284154 A=0.509604 G=0.490396, T=0.000000
Allele Frequency Aggregator Other Sub 15962 A=0.51610 G=0.48390, T=0.00000
Allele Frequency Aggregator African Sub 10340 A=0.78752 G=0.21248, T=0.00000
Allele Frequency Aggregator Latin American 2 Sub 6764 A=0.5333 G=0.4667, T=0.0000
Allele Frequency Aggregator South Asian Sub 5136 A=0.4396 G=0.5604, T=0.0000
Allele Frequency Aggregator Asian Sub 3790 A=0.5551 G=0.4449, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1028 A=0.5739 G=0.4261, T=0.0000
TopMed Global Study-wide 264690 A=0.593657 G=0.406343
gnomAD - Exomes Global Study-wide 249582 A=0.518751 G=0.481249
gnomAD - Exomes European Sub 133556 A=0.507562 G=0.492438
gnomAD - Exomes Asian Sub 48996 A=0.49510 G=0.50490
gnomAD - Exomes American Sub 34586 A=0.50610 G=0.49390
gnomAD - Exomes African Sub 16246 A=0.78542 G=0.21458
gnomAD - Exomes Ashkenazi Jewish Sub 10072 A=0.40349 G=0.59651
gnomAD - Exomes Other Sub 6126 A=0.5056 G=0.4944
gnomAD - Genomes Global Study-wide 139850 A=0.593765 G=0.406235
gnomAD - Genomes European Sub 75738 A=0.51035 G=0.48965
gnomAD - Genomes African Sub 41902 A=0.77832 G=0.22168
gnomAD - Genomes American Sub 13620 A=0.55140 G=0.44860
gnomAD - Genomes Ashkenazi Jewish Sub 3318 A=0.3963 G=0.6037
gnomAD - Genomes East Asian Sub 3122 A=0.5512 G=0.4488
gnomAD - Genomes Other Sub 2150 A=0.5702 G=0.4298
ExAC Global Study-wide 121338 A=0.521436 G=0.478564
ExAC Europe Sub 73306 A=0.50206 G=0.49794
ExAC Asian Sub 25154 A=0.48624 G=0.51376
ExAC American Sub 11572 A=0.49378 G=0.50622
ExAC African Sub 10398 A=0.77871 G=0.22129
ExAC Other Sub 908 A=0.467 G=0.533
The PAGE Study Global Study-wide 78654 A=0.63983 G=0.36017
The PAGE Study AfricanAmerican Sub 32484 A=0.76653 G=0.23347
The PAGE Study Mexican Sub 10806 A=0.51462 G=0.48538
The PAGE Study Asian Sub 8316 A=0.4630 G=0.5370
The PAGE Study PuertoRican Sub 7918 A=0.5806 G=0.4194
The PAGE Study NativeHawaiian Sub 4530 A=0.6905 G=0.3095
The PAGE Study Cuban Sub 4230 A=0.5589 G=0.4411
The PAGE Study Dominican Sub 3826 A=0.6547 G=0.3453
The PAGE Study CentralAmerican Sub 2450 A=0.5514 G=0.4486
The PAGE Study SouthAmerican Sub 1982 A=0.4960 G=0.5040
The PAGE Study NativeAmerican Sub 1256 A=0.5454 G=0.4546
The PAGE Study SouthAsian Sub 856 A=0.468 G=0.532
14KJPN JAPANESE Study-wide 28254 A=0.44829 G=0.55171
8.3KJPN JAPANESE Study-wide 16754 A=0.44944 G=0.55056
GO Exome Sequencing Project Global Study-wide 13006 A=0.58927 G=0.41073
GO Exome Sequencing Project European American Sub 8600 A=0.5001 G=0.4999
GO Exome Sequencing Project African American Sub 4406 A=0.7633 G=0.2367
1000Genomes_30x Global Study-wide 6404 A=0.5984 G=0.4016
1000Genomes_30x African Sub 1786 A=0.8108 G=0.1892
1000Genomes_30x Europe Sub 1266 A=0.5182 G=0.4818
1000Genomes_30x South Asian Sub 1202 A=0.4992 G=0.5008
1000Genomes_30x East Asian Sub 1170 A=0.5299 G=0.4701
1000Genomes_30x American Sub 980 A=0.518 G=0.482
1000Genomes Global Study-wide 5008 A=0.5937 G=0.4063
1000Genomes African Sub 1322 A=0.8094 G=0.1906
1000Genomes East Asian Sub 1008 A=0.5258 G=0.4742
1000Genomes Europe Sub 1006 A=0.5268 G=0.4732
1000Genomes South Asian Sub 978 A=0.501 G=0.499
1000Genomes American Sub 694 A=0.509 G=0.491
Genetic variation in the Estonian population Estonian Study-wide 4478 A=0.5721 G=0.4279
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.4940 G=0.5060
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.5108 G=0.4892
KOREAN population from KRGDB KOREAN Study-wide 2928 A=0.4898 G=0.5102
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 A=0.5572 G=0.4428
HGDP-CEPH-db Supplement 1 Est_Asia Sub 468 A=0.504 G=0.496
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.476 G=0.524
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.489 G=0.511
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.556 G=0.444
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.793 G=0.207
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.537 G=0.463
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.97 G=0.03
HapMap Global Study-wide 1892 A=0.5967 G=0.4033
HapMap American Sub 770 A=0.538 G=0.462
HapMap African Sub 692 A=0.754 G=0.246
HapMap Asian Sub 254 A=0.398 G=0.602
HapMap Europe Sub 176 A=0.523 G=0.477
Korean Genome Project KOREAN Study-wide 1832 A=0.4853 G=0.5147
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.522 G=0.478
CNV burdens in cranial meningiomas Global Study-wide 790 A=0.528 G=0.472
CNV burdens in cranial meningiomas CRM Sub 790 A=0.528 G=0.472
Northern Sweden ACPOP Study-wide 600 A=0.545 G=0.455
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.620 G=0.380
SGDP_PRJ Global Study-wide 336 A=0.339 G=0.661
FINRISK Finnish from FINRISK project Study-wide 304 A=0.507 G=0.493
Qatari Global Study-wide 216 A=0.593 G=0.407
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 84 A=0.50 G=0.50
Siberian Global Study-wide 48 A=0.27 G=0.73
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 9 NC_000009.12:g.114403966A>G
GRCh38.p14 chr 9 NC_000009.12:g.114403966A>T
GRCh37.p13 chr 9 NC_000009.11:g.117166246A>G
GRCh37.p13 chr 9 NC_000009.11:g.117166246A>T
WHRN RefSeqGene (LRG_1094) NG_016700.1:g.106491T>C
WHRN RefSeqGene (LRG_1094) NG_016700.1:g.106491T>A
Gene: WHRN, whirlin (minus strand)
Molecule type Change Amino acid[Codon] SO Term
WHRN transcript variant 4 NM_001346890.1:c.1295T>C V [GTG] > A [GCG] Coding Sequence Variant
whirlin isoform 4 precursor NP_001333819.1:p.Val432Ala V (Val) > A (Ala) Missense Variant
WHRN transcript variant 4 NM_001346890.1:c.1295T>A V [GTG] > E [GAG] Coding Sequence Variant
whirlin isoform 4 precursor NP_001333819.1:p.Val432Glu V (Val) > E (Glu) Missense Variant
WHRN transcript variant 1 NM_015404.4:c.2348T>C V [GTG] > A [GCG] Coding Sequence Variant
whirlin isoform 1 NP_056219.3:p.Val783Ala V (Val) > A (Ala) Missense Variant
WHRN transcript variant 1 NM_015404.4:c.2348T>A V [GTG] > E [GAG] Coding Sequence Variant
whirlin isoform 1 NP_056219.3:p.Val783Glu V (Val) > E (Glu) Missense Variant
WHRN transcript variant 3 NM_001173425.2:c.2345T>C V [GTG] > A [GCG] Coding Sequence Variant
whirlin isoform 3 NP_001166896.1:p.Val782Ala V (Val) > A (Ala) Missense Variant
WHRN transcript variant 3 NM_001173425.2:c.2345T>A V [GTG] > E [GAG] Coding Sequence Variant
whirlin isoform 3 NP_001166896.1:p.Val782Glu V (Val) > E (Glu) Missense Variant
WHRN transcript variant 2 NM_001083885.3:c.1199T>C V [GTG] > A [GCG] Coding Sequence Variant
whirlin isoform 2 NP_001077354.2:p.Val400Ala V (Val) > A (Ala) Missense Variant
WHRN transcript variant 2 NM_001083885.3:c.1199T>A V [GTG] > E [GAG] Coding Sequence Variant
whirlin isoform 2 NP_001077354.2:p.Val400Glu V (Val) > E (Glu) Missense Variant
WHRN transcript variant X23 XM_011518491.4:c. N/A Genic Downstream Transcript Variant
WHRN transcript variant X24 XM_011518492.3:c. N/A Genic Downstream Transcript Variant
WHRN transcript variant X25 XM_011518494.4:c. N/A Genic Downstream Transcript Variant
WHRN transcript variant X12 XM_047423170.1:c. N/A Genic Downstream Transcript Variant
WHRN transcript variant X13 XM_047423171.1:c. N/A Genic Downstream Transcript Variant
WHRN transcript variant X16 XM_047423173.1:c. N/A Genic Downstream Transcript Variant
WHRN transcript variant X26 XM_047423174.1:c. N/A Genic Downstream Transcript Variant
WHRN transcript variant X1 XM_011518485.2:c.2381T>C V [GTG] > A [GCG] Coding Sequence Variant
whirlin isoform X1 XP_011516787.1:p.Val794Ala V (Val) > A (Ala) Missense Variant
WHRN transcript variant X1 XM_011518485.2:c.2381T>A V [GTG] > E [GAG] Coding Sequence Variant
whirlin isoform X1 XP_011516787.1:p.Val794Glu V (Val) > E (Glu) Missense Variant
WHRN transcript variant X2 XM_011518486.3:c.2378T>C V [GTG] > A [GCG] Coding Sequence Variant
whirlin isoform X2 XP_011516788.1:p.Val793Ala V (Val) > A (Ala) Missense Variant
WHRN transcript variant X2 XM_011518486.3:c.2378T>A V [GTG] > E [GAG] Coding Sequence Variant
whirlin isoform X2 XP_011516788.1:p.Val793Glu V (Val) > E (Glu) Missense Variant
WHRN transcript variant X3 XM_047423161.1:c.2348T>C V [GTG] > A [GCG] Coding Sequence Variant
whirlin isoform X3 XP_047279117.1:p.Val783Ala V (Val) > A (Ala) Missense Variant
WHRN transcript variant X3 XM_047423161.1:c.2348T>A V [GTG] > E [GAG] Coding Sequence Variant
whirlin isoform X3 XP_047279117.1:p.Val783Glu V (Val) > E (Glu) Missense Variant
WHRN transcript variant X4 XM_047423163.1:c.2345T>C V [GTG] > A [GCG] Coding Sequence Variant
whirlin isoform X4 XP_047279119.1:p.Val782Ala V (Val) > A (Ala) Missense Variant
WHRN transcript variant X4 XM_047423163.1:c.2345T>A V [GTG] > E [GAG] Coding Sequence Variant
whirlin isoform X4 XP_047279119.1:p.Val782Glu V (Val) > E (Glu) Missense Variant
WHRN transcript variant X5 XM_011518487.3:c.2255T>C V [GTG] > A [GCG] Coding Sequence Variant
whirlin isoform X5 XP_011516789.1:p.Val752Ala V (Val) > A (Ala) Missense Variant
WHRN transcript variant X5 XM_011518487.3:c.2255T>A V [GTG] > E [GAG] Coding Sequence Variant
whirlin isoform X5 XP_011516789.1:p.Val752Glu V (Val) > E (Glu) Missense Variant
WHRN transcript variant X6 XM_047423164.1:c.2222T>C V [GTG] > A [GCG] Coding Sequence Variant
whirlin isoform X6 XP_047279120.1:p.Val741Ala V (Val) > A (Ala) Missense Variant
WHRN transcript variant X6 XM_047423164.1:c.2222T>A V [GTG] > E [GAG] Coding Sequence Variant
whirlin isoform X6 XP_047279120.1:p.Val741Glu V (Val) > E (Glu) Missense Variant
WHRN transcript variant X7 XM_047423165.1:c.2219T>C V [GTG] > A [GCG] Coding Sequence Variant
whirlin isoform X7 XP_047279121.1:p.Val740Ala V (Val) > A (Ala) Missense Variant
WHRN transcript variant X7 XM_047423165.1:c.2219T>A V [GTG] > E [GAG] Coding Sequence Variant
whirlin isoform X7 XP_047279121.1:p.Val740Glu V (Val) > E (Glu) Missense Variant
WHRN transcript variant X8 XM_047423166.1:c.2138T>C V [GTG] > A [GCG] Coding Sequence Variant
whirlin isoform X8 XP_047279122.1:p.Val713Ala V (Val) > A (Ala) Missense Variant
WHRN transcript variant X8 XM_047423166.1:c.2138T>A V [GTG] > E [GAG] Coding Sequence Variant
whirlin isoform X8 XP_047279122.1:p.Val713Glu V (Val) > E (Glu) Missense Variant
WHRN transcript variant X9 XM_047423167.1:c.2135T>C V [GTG] > A [GCG] Coding Sequence Variant
whirlin isoform X9 XP_047279123.1:p.Val712Ala V (Val) > A (Ala) Missense Variant
WHRN transcript variant X9 XM_047423167.1:c.2135T>A V [GTG] > E [GAG] Coding Sequence Variant
whirlin isoform X9 XP_047279123.1:p.Val712Glu V (Val) > E (Glu) Missense Variant
WHRN transcript variant X10 XM_047423168.1:c.2012T>C V [GTG] > A [GCG] Coding Sequence Variant
whirlin isoform X10 XP_047279124.1:p.Val671Ala V (Val) > A (Ala) Missense Variant
WHRN transcript variant X10 XM_047423168.1:c.2012T>A V [GTG] > E [GAG] Coding Sequence Variant
whirlin isoform X10 XP_047279124.1:p.Val671Glu V (Val) > E (Glu) Missense Variant
WHRN transcript variant X11 XM_047423169.1:c.2009T>C V [GTG] > A [GCG] Coding Sequence Variant
whirlin isoform X11 XP_047279125.1:p.Val670Ala V (Val) > A (Ala) Missense Variant
WHRN transcript variant X11 XM_047423169.1:c.2009T>A V [GTG] > E [GAG] Coding Sequence Variant
whirlin isoform X11 XP_047279125.1:p.Val670Glu V (Val) > E (Glu) Missense Variant
WHRN transcript variant X14 XR_929749.3:n. N/A Genic Downstream Transcript Variant
WHRN transcript variant X15 XR_929750.4:n. N/A Genic Downstream Transcript Variant
WHRN transcript variant X17 XR_929752.3:n. N/A Genic Downstream Transcript Variant
WHRN transcript variant X18 XR_929753.4:n. N/A Genic Downstream Transcript Variant
WHRN transcript variant X19 XR_929754.3:n. N/A Genic Downstream Transcript Variant
WHRN transcript variant X20 XR_929755.4:n. N/A Genic Downstream Transcript Variant
WHRN transcript variant X21 XR_929756.3:n. N/A Genic Downstream Transcript Variant
WHRN transcript variant X22 XR_929757.3:n. N/A Genic Downstream Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: G (allele ID: 54837 )
ClinVar Accession Disease Names Clinical Significance
RCV000038890.5 not specified Benign
RCV000278001.3 Usher syndrome type 2D Benign
RCV000370224.5 Autosomal recessive nonsyndromic hearing loss 31 Benign
RCV001517112.7 not provided Benign
Allele: T (allele ID: 955661 )
ClinVar Accession Disease Names Clinical Significance
RCV001248312.5 not provided Uncertain-Significance
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 9 NC_000009.12:g.114403966= NC_000009.12:g.114403966A>G NC_000009.12:g.114403966A>T
GRCh37.p13 chr 9 NC_000009.11:g.117166246= NC_000009.11:g.117166246A>G NC_000009.11:g.117166246A>T
WHRN RefSeqGene (LRG_1094) NG_016700.1:g.106491= NG_016700.1:g.106491T>C NG_016700.1:g.106491T>A
WHRN transcript variant 1 NM_015404.4:c.2348= NM_015404.4:c.2348T>C NM_015404.4:c.2348T>A
WHRN transcript variant 1 NM_015404.3:c.2348= NM_015404.3:c.2348T>C NM_015404.3:c.2348T>A
WHRN transcript variant 2 NM_001083885.3:c.1199= NM_001083885.3:c.1199T>C NM_001083885.3:c.1199T>A
WHRN transcript variant 2 NM_001083885.2:c.1199= NM_001083885.2:c.1199T>C NM_001083885.2:c.1199T>A
WHRN transcript variant 3 NM_001173425.2:c.2345= NM_001173425.2:c.2345T>C NM_001173425.2:c.2345T>A
WHRN transcript variant 3 NM_001173425.1:c.2345= NM_001173425.1:c.2345T>C NM_001173425.1:c.2345T>A
WHRN transcript variant 4 NM_001346890.1:c.1295= NM_001346890.1:c.1295T>C NM_001346890.1:c.1295T>A
WHRN transcript variant X2 XM_011518486.3:c.2378= XM_011518486.3:c.2378T>C XM_011518486.3:c.2378T>A
WHRN transcript variant X2 XM_011518486.2:c.2378= XM_011518486.2:c.2378T>C XM_011518486.2:c.2378T>A
WHRN transcript variant X3 XM_011518486.1:c.2378= XM_011518486.1:c.2378T>C XM_011518486.1:c.2378T>A
WHRN transcript variant X5 XM_011518487.3:c.2255= XM_011518487.3:c.2255T>C XM_011518487.3:c.2255T>A
WHRN transcript variant X3 XM_011518487.2:c.2255= XM_011518487.2:c.2255T>C XM_011518487.2:c.2255T>A
WHRN transcript variant X4 XM_011518487.1:c.2255= XM_011518487.1:c.2255T>C XM_011518487.1:c.2255T>A
WHRN transcript variant X1 XM_011518485.2:c.2381= XM_011518485.2:c.2381T>C XM_011518485.2:c.2381T>A
WHRN transcript variant X1 XM_011518485.1:c.2381= XM_011518485.1:c.2381T>C XM_011518485.1:c.2381T>A
WHRN transcript variant X3 XM_047423161.1:c.2348= XM_047423161.1:c.2348T>C XM_047423161.1:c.2348T>A
WHRN transcript variant X4 XM_047423163.1:c.2345= XM_047423163.1:c.2345T>C XM_047423163.1:c.2345T>A
WHRN transcript variant X9 XM_047423167.1:c.2135= XM_047423167.1:c.2135T>C XM_047423167.1:c.2135T>A
WHRN transcript variant X6 XM_047423164.1:c.2222= XM_047423164.1:c.2222T>C XM_047423164.1:c.2222T>A
WHRN transcript variant X7 XM_047423165.1:c.2219= XM_047423165.1:c.2219T>C XM_047423165.1:c.2219T>A
WHRN transcript variant X11 XM_047423169.1:c.2009= XM_047423169.1:c.2009T>C XM_047423169.1:c.2009T>A
WHRN transcript variant X8 XM_047423166.1:c.2138= XM_047423166.1:c.2138T>C XM_047423166.1:c.2138T>A
WHRN transcript variant X10 XM_047423168.1:c.2012= XM_047423168.1:c.2012T>C XM_047423168.1:c.2012T>A
whirlin isoform 1 NP_056219.3:p.Val783= NP_056219.3:p.Val783Ala NP_056219.3:p.Val783Glu
whirlin isoform 2 NP_001077354.2:p.Val400= NP_001077354.2:p.Val400Ala NP_001077354.2:p.Val400Glu
whirlin isoform 3 NP_001166896.1:p.Val782= NP_001166896.1:p.Val782Ala NP_001166896.1:p.Val782Glu
whirlin isoform 4 precursor NP_001333819.1:p.Val432= NP_001333819.1:p.Val432Ala NP_001333819.1:p.Val432Glu
whirlin isoform X2 XP_011516788.1:p.Val793= XP_011516788.1:p.Val793Ala XP_011516788.1:p.Val793Glu
whirlin isoform X5 XP_011516789.1:p.Val752= XP_011516789.1:p.Val752Ala XP_011516789.1:p.Val752Glu
whirlin isoform X1 XP_011516787.1:p.Val794= XP_011516787.1:p.Val794Ala XP_011516787.1:p.Val794Glu
whirlin isoform X3 XP_047279117.1:p.Val783= XP_047279117.1:p.Val783Ala XP_047279117.1:p.Val783Glu
whirlin isoform X4 XP_047279119.1:p.Val782= XP_047279119.1:p.Val782Ala XP_047279119.1:p.Val782Glu
whirlin isoform X9 XP_047279123.1:p.Val712= XP_047279123.1:p.Val712Ala XP_047279123.1:p.Val712Glu
whirlin isoform X6 XP_047279120.1:p.Val741= XP_047279120.1:p.Val741Ala XP_047279120.1:p.Val741Glu
whirlin isoform X7 XP_047279121.1:p.Val740= XP_047279121.1:p.Val740Ala XP_047279121.1:p.Val740Glu
whirlin isoform X11 XP_047279125.1:p.Val670= XP_047279125.1:p.Val670Ala XP_047279125.1:p.Val670Glu
whirlin isoform X8 XP_047279122.1:p.Val713= XP_047279122.1:p.Val713Ala XP_047279122.1:p.Val713Glu
whirlin isoform X10 XP_047279124.1:p.Val671= XP_047279124.1:p.Val671Ala XP_047279124.1:p.Val671Glu
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#.

175 SubSNP, 27 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3209857 Sep 28, 2001 (100)
2 SC_SNP ss15959877 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss19786529 Feb 27, 2004 (120)
4 SSAHASNP ss22851425 Apr 05, 2004 (121)
5 ABI ss43933859 Mar 13, 2006 (126)
6 ILLUMINA ss65731096 Oct 16, 2006 (127)
7 ILLUMINA ss66677022 Nov 30, 2006 (127)
8 ILLUMINA ss67240326 Nov 30, 2006 (127)
9 ILLUMINA ss67636955 Nov 30, 2006 (127)
10 PERLEGEN ss69301305 May 17, 2007 (127)
11 ILLUMINA ss70718666 May 24, 2008 (130)
12 ILLUMINA ss71286876 May 17, 2007 (127)
13 ILLUMINA ss75591551 Dec 07, 2007 (129)
14 CGM_KYOTO ss76871303 Dec 07, 2007 (129)
15 SI_EXO ss76890271 Dec 07, 2007 (129)
16 ILLUMINA ss79125151 Dec 15, 2007 (130)
17 KRIBB_YJKIM ss84015939 Dec 15, 2007 (130)
18 HUMANGENOME_JCVI ss97826357 Feb 05, 2009 (130)
19 BGI ss105697944 Feb 05, 2009 (130)
20 1000GENOMES ss114978476 Jan 25, 2009 (130)
21 ILLUMINA ss121977243 Dec 01, 2009 (131)
22 ENSEMBL ss133547265 Dec 01, 2009 (131)
23 ILLUMINA ss153897384 Dec 01, 2009 (131)
24 ILLUMINA ss159375226 Dec 01, 2009 (131)
25 SEATTLESEQ ss159719021 Dec 01, 2009 (131)
26 ILLUMINA ss160525792 Dec 01, 2009 (131)
27 COMPLETE_GENOMICS ss164741423 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss165726768 Jul 04, 2010 (132)
29 ILLUMINA ss171144405 Jul 04, 2010 (132)
30 ILLUMINA ss173235347 Jul 04, 2010 (132)
31 BUSHMAN ss200803519 Jul 04, 2010 (132)
32 1000GENOMES ss224419954 Jul 14, 2010 (132)
33 1000GENOMES ss234947527 Jul 15, 2010 (132)
34 1000GENOMES ss241698647 Jul 15, 2010 (132)
35 LMM-PCPGM ss244316907 Jun 15, 2010 (132)
36 BL ss254502072 May 09, 2011 (134)
37 GMI ss280376392 May 04, 2012 (137)
38 GMI ss286082420 Apr 25, 2013 (138)
39 PJP ss294359055 May 09, 2011 (134)
40 NHLBI-ESP ss342281396 May 09, 2011 (134)
41 ILLUMINA ss480498045 May 04, 2012 (137)
42 ILLUMINA ss480512398 May 04, 2012 (137)
43 ILLUMINA ss481317440 Sep 08, 2015 (146)
44 ILLUMINA ss485046519 May 04, 2012 (137)
45 1000GENOMES ss490984048 May 04, 2012 (137)
46 EXOME_CHIP ss491426981 May 04, 2012 (137)
47 CLINSEQ_SNP ss491941787 May 04, 2012 (137)
48 ILLUMINA ss537066610 Sep 08, 2015 (146)
49 TISHKOFF ss561593500 Apr 25, 2013 (138)
50 SSMP ss656090345 Apr 25, 2013 (138)
51 ILLUMINA ss778488994 Aug 21, 2014 (142)
52 ILLUMINA ss780880069 Aug 21, 2014 (142)
53 ILLUMINA ss782969481 Aug 21, 2014 (142)
54 ILLUMINA ss783565701 Aug 21, 2014 (142)
55 ILLUMINA ss783931139 Aug 21, 2014 (142)
56 ILLUMINA ss825455669 Apr 01, 2015 (144)
57 ILLUMINA ss832225790 Apr 01, 2015 (144)
58 ILLUMINA ss832887035 Aug 21, 2014 (142)
59 ILLUMINA ss833477865 Aug 21, 2014 (142)
60 ILLUMINA ss833944969 Aug 21, 2014 (142)
61 EVA-GONL ss986914449 Aug 21, 2014 (142)
62 JMKIDD_LAB ss1067506552 Aug 21, 2014 (142)
63 JMKIDD_LAB ss1076560880 Aug 21, 2014 (142)
64 1000GENOMES ss1335200864 Aug 21, 2014 (142)
65 DDI ss1431942865 Apr 01, 2015 (144)
66 EVA_FINRISK ss1584064187 Apr 01, 2015 (144)
67 EVA_UK10K_ALSPAC ss1623425892 Apr 01, 2015 (144)
68 EVA_UK10K_TWINSUK ss1666419925 Apr 01, 2015 (144)
69 EVA_EXAC ss1689625070 Apr 01, 2015 (144)
70 EVA_MGP ss1711234749 Apr 01, 2015 (144)
71 EVA_SVP ss1713135625 Apr 01, 2015 (144)
72 ILLUMINA ss1752755967 Sep 08, 2015 (146)
73 ILLUMINA ss1752755968 Sep 08, 2015 (146)
74 HAMMER_LAB ss1806133933 Sep 08, 2015 (146)
75 ILLUMINA ss1917839901 Feb 12, 2016 (147)
76 WEILL_CORNELL_DGM ss1930228732 Feb 12, 2016 (147)
77 ILLUMINA ss1946267081 Feb 12, 2016 (147)
78 ILLUMINA ss1959210219 Feb 12, 2016 (147)
79 GENOMED ss1971293843 Jul 19, 2016 (147)
80 JJLAB ss2025836352 Sep 14, 2016 (149)
81 USC_VALOUEV ss2154065188 Dec 20, 2016 (150)
82 HUMAN_LONGEVITY ss2313891960 Dec 20, 2016 (150)
83 SYSTEMSBIOZJU ss2627385202 Nov 08, 2017 (151)
84 ILLUMINA ss2634909165 Nov 08, 2017 (151)
85 GRF ss2709944803 Nov 08, 2017 (151)
86 GNOMAD ss2737820929 Nov 08, 2017 (151)
87 GNOMAD ss2748252540 Nov 08, 2017 (151)
88 GNOMAD ss2882482377 Nov 08, 2017 (151)
89 AFFY ss2985471398 Nov 08, 2017 (151)
90 AFFY ss2986118190 Nov 08, 2017 (151)
91 SWEGEN ss3005488433 Nov 08, 2017 (151)
92 ILLUMINA ss3022958769 Nov 08, 2017 (151)
93 EVA_SAMSUNG_MC ss3023064835 Nov 08, 2017 (151)
94 BIOINF_KMB_FNS_UNIBA ss3026700749 Nov 08, 2017 (151)
95 CSHL ss3348830794 Nov 08, 2017 (151)
96 ILLUMINA ss3630341085 Oct 12, 2018 (152)
97 ILLUMINA ss3630341086 Oct 12, 2018 (152)
98 ILLUMINA ss3632798953 Oct 12, 2018 (152)
99 ILLUMINA ss3633545957 Oct 12, 2018 (152)
100 ILLUMINA ss3634274775 Oct 12, 2018 (152)
101 ILLUMINA ss3635229621 Oct 12, 2018 (152)
102 ILLUMINA ss3635229622 Oct 12, 2018 (152)
103 ILLUMINA ss3635952485 Oct 12, 2018 (152)
104 ILLUMINA ss3636977964 Oct 12, 2018 (152)
105 ILLUMINA ss3637705849 Oct 12, 2018 (152)
106 ILLUMINA ss3638832181 Oct 12, 2018 (152)
107 ILLUMINA ss3639421733 Oct 12, 2018 (152)
108 ILLUMINA ss3639744607 Oct 12, 2018 (152)
109 ILLUMINA ss3640936910 Oct 12, 2018 (152)
110 ILLUMINA ss3640936911 Oct 12, 2018 (152)
111 ILLUMINA ss3643757663 Oct 12, 2018 (152)
112 ILLUMINA ss3645000415 Oct 12, 2018 (152)
113 OMUKHERJEE_ADBS ss3646397045 Oct 12, 2018 (152)
114 URBANLAB ss3649226413 Oct 12, 2018 (152)
115 ILLUMINA ss3653512837 Oct 12, 2018 (152)
116 ILLUMINA ss3654236343 Oct 12, 2018 (152)
117 EGCUT_WGS ss3673027549 Jul 13, 2019 (153)
118 EVA_DECODE ss3724625368 Jul 13, 2019 (153)
119 ACPOP ss3736822223 Jul 13, 2019 (153)
120 ILLUMINA ss3744592679 Jul 13, 2019 (153)
121 ILLUMINA ss3745529530 Jul 13, 2019 (153)
122 ILLUMINA ss3745529531 Jul 13, 2019 (153)
123 EVA ss3769610788 Jul 13, 2019 (153)
124 PAGE_CC ss3771521049 Jul 13, 2019 (153)
125 ILLUMINA ss3773021409 Jul 13, 2019 (153)
126 ILLUMINA ss3773021410 Jul 13, 2019 (153)
127 PACBIO ss3786505940 Jul 13, 2019 (153)
128 PACBIO ss3791707906 Jul 13, 2019 (153)
129 PACBIO ss3796589409 Jul 13, 2019 (153)
130 KHV_HUMAN_GENOMES ss3812778074 Jul 13, 2019 (153)
131 EVA ss3824458490 Apr 26, 2020 (154)
132 EVA ss3825525969 Apr 26, 2020 (154)
133 EVA ss3825541551 Apr 26, 2020 (154)
134 EVA ss3825761274 Apr 26, 2020 (154)
135 EVA ss3831828751 Apr 26, 2020 (154)
136 EVA ss3839443301 Apr 26, 2020 (154)
137 EVA ss3844907796 Apr 26, 2020 (154)
138 HGDP ss3847960446 Apr 26, 2020 (154)
139 SGDP_PRJ ss3872939138 Apr 26, 2020 (154)
140 KRGDB ss3920798429 Apr 26, 2020 (154)
141 KOGIC ss3966614650 Apr 26, 2020 (154)
142 FSA-LAB ss3984427266 Apr 26, 2021 (155)
143 FSA-LAB ss3984427267 Apr 26, 2021 (155)
144 EVA ss3984624977 Apr 26, 2021 (155)
145 EVA ss3985440807 Apr 26, 2021 (155)
146 EVA ss3986047778 Apr 26, 2021 (155)
147 EVA ss3986458821 Apr 26, 2021 (155)
148 EVA ss4017455446 Apr 26, 2021 (155)
149 TOPMED ss4833367322 Apr 26, 2021 (155)
150 TOMMO_GENOMICS ss5195003939 Apr 26, 2021 (155)
151 EVA ss5237051385 Apr 26, 2021 (155)
152 EVA ss5237205550 Apr 26, 2021 (155)
153 EVA ss5237465798 Apr 26, 2021 (155)
154 EVA ss5237653561 Oct 16, 2022 (156)
155 1000G_HIGH_COVERAGE ss5281958057 Oct 16, 2022 (156)
156 TRAN_CS_UWATERLOO ss5314426253 Oct 16, 2022 (156)
157 EVA ss5315428440 Oct 16, 2022 (156)
158 EVA ss5389838513 Oct 16, 2022 (156)
159 HUGCELL_USP ss5477846839 Oct 16, 2022 (156)
160 1000G_HIGH_COVERAGE ss5574902453 Oct 16, 2022 (156)
161 EVA ss5624187123 Oct 16, 2022 (156)
162 SANFORD_IMAGENETICS ss5648141978 Oct 16, 2022 (156)
163 TOMMO_GENOMICS ss5739446435 Oct 16, 2022 (156)
164 EVA ss5799438362 Oct 16, 2022 (156)
165 EVA ss5799794749 Oct 16, 2022 (156)
166 EVA ss5800153826 Oct 16, 2022 (156)
167 YY_MCH ss5810950391 Oct 16, 2022 (156)
168 EVA ss5829661885 Oct 16, 2022 (156)
169 EVA ss5848217104 Oct 16, 2022 (156)
170 EVA ss5848729063 Oct 16, 2022 (156)
171 EVA ss5856909873 Oct 16, 2022 (156)
172 EVA ss5917767393 Oct 16, 2022 (156)
173 EVA ss5977343950 Oct 16, 2022 (156)
174 EVA ss5979904055 Oct 16, 2022 (156)
175 EVA ss5981256083 Oct 16, 2022 (156)
176 1000Genomes NC_000009.11 - 117166246 Oct 12, 2018 (152)
177 1000Genomes_30x NC_000009.12 - 114403966 Oct 16, 2022 (156)
178 The Avon Longitudinal Study of Parents and Children NC_000009.11 - 117166246 Oct 12, 2018 (152)
179 Genetic variation in the Estonian population NC_000009.11 - 117166246 Oct 12, 2018 (152)
180 ExAC NC_000009.11 - 117166246 Oct 12, 2018 (152)
181 FINRISK NC_000009.11 - 117166246 Apr 26, 2020 (154)
182 gnomAD - Genomes NC_000009.12 - 114403966 Apr 26, 2021 (155)
183 gnomAD - Exomes NC_000009.11 - 117166246 Jul 13, 2019 (153)
184 GO Exome Sequencing Project NC_000009.11 - 117166246 Oct 12, 2018 (152)
185 Genome of the Netherlands Release 5 NC_000009.11 - 117166246 Apr 26, 2020 (154)
186 HGDP-CEPH-db Supplement 1 NC_000009.10 - 116206067 Apr 26, 2020 (154)
187 HapMap NC_000009.12 - 114403966 Apr 26, 2020 (154)
188 KOREAN population from KRGDB NC_000009.11 - 117166246 Apr 26, 2020 (154)
189 Korean Genome Project NC_000009.12 - 114403966 Apr 26, 2020 (154)
190 Medical Genome Project healthy controls from Spanish population NC_000009.11 - 117166246 Apr 26, 2020 (154)
191 Northern Sweden NC_000009.11 - 117166246 Jul 13, 2019 (153)
192 The PAGE Study NC_000009.12 - 114403966 Jul 13, 2019 (153)
193 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000009.11 - 117166246 Apr 26, 2021 (155)
194 CNV burdens in cranial meningiomas NC_000009.11 - 117166246 Apr 26, 2021 (155)
195 Qatari NC_000009.11 - 117166246 Apr 26, 2020 (154)
196 SGDP_PRJ NC_000009.11 - 117166246 Apr 26, 2020 (154)
197 Siberian NC_000009.11 - 117166246 Apr 26, 2020 (154)
198 8.3KJPN NC_000009.11 - 117166246 Apr 26, 2021 (155)
199 14KJPN NC_000009.12 - 114403966 Oct 16, 2022 (156)
200 TopMed NC_000009.12 - 114403966 Apr 26, 2021 (155)
201 UK 10K study - Twins NC_000009.11 - 117166246 Oct 12, 2018 (152)
202 ALFA NC_000009.12 - 114403966 Apr 26, 2021 (155)
203 ClinVar RCV000038890.5 Oct 16, 2022 (156)
204 ClinVar RCV000278001.3 Oct 16, 2022 (156)
205 ClinVar RCV000370224.5 Oct 16, 2022 (156)
206 ClinVar RCV001248312.5 Oct 16, 2022 (156)
207 ClinVar RCV001517112.7 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)
rs58704054 May 24, 2008 (130)
rs116876536 Aug 16, 2010 (132)
rs386563199 Aug 06, 2014 (136)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639421733, ss3639744607 NC_000009.9:114245799:A:G NC_000009.12:114403965:A:G (self)
638338, ss114978476, ss160525792, ss164741423, ss165726768, ss200803519, ss254502072, ss280376392, ss286082420, ss294359055, ss480498045, ss491941787, ss825455669, ss1713135625, ss3643757663, ss3847960446 NC_000009.10:116206066:A:G NC_000009.12:114403965:A:G (self)
47510062, 26397854, 18765797, 9758876, 60648, 7007877, 916251, 11781616, 27975823, 350509, 10107088, 666734, 174428, 12270662, 24956118, 6581542, 52973246, 26397854, ss224419954, ss234947527, ss241698647, ss342281396, ss480512398, ss481317440, ss485046519, ss490984048, ss491426981, ss537066610, ss561593500, ss656090345, ss778488994, ss780880069, ss782969481, ss783565701, ss783931139, ss832225790, ss832887035, ss833477865, ss833944969, ss986914449, ss1067506552, ss1076560880, ss1335200864, ss1431942865, ss1584064187, ss1623425892, ss1666419925, ss1689625070, ss1711234749, ss1752755967, ss1752755968, ss1806133933, ss1917839901, ss1930228732, ss1946267081, ss1959210219, ss1971293843, ss2025836352, ss2154065188, ss2627385202, ss2634909165, ss2709944803, ss2737820929, ss2748252540, ss2882482377, ss2985471398, ss2986118190, ss3005488433, ss3022958769, ss3023064835, ss3348830794, ss3630341085, ss3630341086, ss3632798953, ss3633545957, ss3634274775, ss3635229621, ss3635229622, ss3635952485, ss3636977964, ss3637705849, ss3638832181, ss3640936910, ss3640936911, ss3645000415, ss3646397045, ss3653512837, ss3654236343, ss3673027549, ss3736822223, ss3744592679, ss3745529530, ss3745529531, ss3769610788, ss3773021409, ss3773021410, ss3786505940, ss3791707906, ss3796589409, ss3824458490, ss3825525969, ss3825541551, ss3825761274, ss3831828751, ss3839443301, ss3872939138, ss3920798429, ss3984427266, ss3984427267, ss3984624977, ss3985440807, ss3986047778, ss3986458821, ss4017455446, ss5195003939, ss5237465798, ss5315428440, ss5389838513, ss5624187123, ss5648141978, ss5799438362, ss5799794749, ss5800153826, ss5829661885, ss5848217104, ss5848729063, ss5977343950, ss5979904055, ss5981256083 NC_000009.11:117166245:A:G NC_000009.12:114403965:A:G (self)
RCV000038890.5, RCV000278001.3, RCV000370224.5, RCV001517112.7, 62428388, 335777972, 3903982, 22992651, 742518, 73283539, 670744883, 928171162, ss244316907, ss2313891960, ss3026700749, ss3649226413, ss3724625368, ss3771521049, ss3812778074, ss3844907796, ss3966614650, ss4833367322, ss5237051385, ss5237205550, ss5237653561, ss5281958057, ss5314426253, ss5477846839, ss5574902453, ss5739446435, ss5810950391, ss5856909873, ss5917767393 NC_000009.12:114403965:A:G NC_000009.12:114403965:A:G (self)
ss15959877, ss19786529, ss22851425 NT_008470.16:18823980:A:G NC_000009.12:114403965:A:G (self)
ss76890271 NT_008470.18:24487450:A:G NC_000009.12:114403965:A:G (self)
ss3209857, ss43933859, ss65731096, ss66677022, ss67240326, ss67636955, ss69301305, ss70718666, ss71286876, ss75591551, ss76871303, ss79125151, ss84015939, ss97826357, ss105697944, ss121977243, ss133547265, ss153897384, ss159375226, ss159719021, ss171144405, ss173235347 NT_008470.19:46330777:A:G NC_000009.12:114403965:A:G (self)
RCV001248312.5, 928171162 NC_000009.12:114403965:A:T NC_000009.12:114403965: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.

7 citations for rs2274159
PMID Title Author Year Journal
15841483 Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss. Tlili A et al. 2005 Human mutation
18779388 Evaluation of the potential excess of statistically significant findings in published genetic association studies: application to Alzheimer's disease. Kavvoura FK et al. 2008 American journal of epidemiology
20352026 Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin. Aller E et al. 2010 Molecular vision
21239504 Novel chemosensitive single-nucleotide polymorphism markers to targeted regimens in metastatic colorectal cancer. Kim JC et al. 2011 Clinical cancer research
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
25469008 Recent applications of chemosensitivity tests for colorectal cancer treatment. Yoon YS et al. 2014 World journal of gastroenterology
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
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07