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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs7893462

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:27939936 (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
A=0.461108 (135846/294608, ALFA)
A=0.485496 (128506/264690, TOPMED)
A=0.464676 (114616/246658, GnomAD_exome) (+ 25 more)
A=0.487078 (68076/139764, GnomAD)
A=0.463648 (56183/121176, ExAC)
A=0.49715 (39126/78700, PAGE_STUDY)
A=0.45099 (12744/28258, 14KJPN)
A=0.45119 (7562/16760, 8.3KJPN)
A=0.49193 (6398/13006, GO-ESP)
A=0.4710 (3016/6404, 1000G_30x)
A=0.4669 (2338/5008, 1000G)
G=0.4888 (2190/4480, Estonian)
A=0.4624 (1782/3854, ALSPAC)
A=0.4763 (1766/3708, TWINSUK)
A=0.4375 (1282/2930, KOREAN)
A=0.4760 (992/2084, HGDP_Stanford)
A=0.4807 (573/1192, HapMap)
A=0.470 (469/998, GoNL)
A=0.463 (365/788, PRJEB37584)
G=0.464 (284/612, Vietnamese)
A=0.442 (265/600, NorthernSweden)
A=0.378 (202/534, MGP)
A=0.302 (127/420, SGDP_PRJ)
A=0.490 (149/304, FINRISK)
A=0.370 (80/216, Qatari)
A=0.24 (22/92, Ancient Sardinia)
A=0.40 (16/40, GENOME_DK)
A=0.32 (11/34, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ODAD2 : Missense Variant
Publications
2 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 311050 A=0.463025 G=0.536975, T=0.000000
European Sub 255062 A=0.460613 G=0.539387, T=0.000000
African Sub 13430 A=0.54847 G=0.45153, T=0.00000
African Others Sub 454 A=0.548 G=0.452, T=0.000
African American Sub 12976 A=0.54847 G=0.45153, T=0.00000
Asian Sub 3822 A=0.4503 G=0.5497, T=0.0000
East Asian Sub 2422 A=0.4463 G=0.5537, T=0.0000
Other Asian Sub 1400 A=0.4571 G=0.5429, T=0.0000
Latin American 1 Sub 1340 A=0.4567 G=0.5433, T=0.0000
Latin American 2 Sub 9024 A=0.4680 G=0.5320, T=0.0000
South Asian Sub 5058 A=0.3913 G=0.6087, T=0.0000
Other Sub 23314 A=0.45629 G=0.54371, 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 294608 A=0.461108 G=0.538892, T=0.000000
Allele Frequency Aggregator European Sub 244900 A=0.459788 G=0.540212, T=0.000000
Allele Frequency Aggregator Other Sub 21868 A=0.45445 G=0.54555, T=0.00000
Allele Frequency Aggregator Latin American 2 Sub 9024 A=0.4680 G=0.5320, T=0.0000
Allele Frequency Aggregator African Sub 8596 A=0.5550 G=0.4450, T=0.0000
Allele Frequency Aggregator South Asian Sub 5058 A=0.3913 G=0.6087, T=0.0000
Allele Frequency Aggregator Asian Sub 3822 A=0.4503 G=0.5497, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1340 A=0.4567 G=0.5433, T=0.0000
TopMed Global Study-wide 264690 A=0.485496 G=0.514504
gnomAD - Exomes Global Study-wide 246658 A=0.464676 G=0.535324
gnomAD - Exomes European Sub 133492 A=0.465548 G=0.534452
gnomAD - Exomes Asian Sub 47840 A=0.42163 G=0.57837
gnomAD - Exomes American Sub 33482 A=0.48540 G=0.51460
gnomAD - Exomes African Sub 15960 A=0.55031 G=0.44969
gnomAD - Exomes Ashkenazi Jewish Sub 9934 A=0.4644 G=0.5356
gnomAD - Exomes Other Sub 5950 A=0.4454 G=0.5546
gnomAD - Genomes Global Study-wide 139764 A=0.487078 G=0.512922
gnomAD - Genomes European Sub 75762 A=0.46789 G=0.53211
gnomAD - Genomes African Sub 41798 A=0.54373 G=0.45627
gnomAD - Genomes American Sub 13622 A=0.43496 G=0.56504
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=0.4714 G=0.5286
gnomAD - Genomes East Asian Sub 3116 A=0.4564 G=0.5436
gnomAD - Genomes Other Sub 2146 A=0.4609 G=0.5391
ExAC Global Study-wide 121176 A=0.463648 G=0.536352
ExAC Europe Sub 73264 A=0.46610 G=0.53390
ExAC Asian Sub 25078 A=0.41307 G=0.58693
ExAC American Sub 11526 A=0.49332 G=0.50668
ExAC African Sub 10400 A=0.53702 G=0.46298
ExAC Other Sub 908 A=0.446 G=0.554
The PAGE Study Global Study-wide 78700 A=0.49715 G=0.50285
The PAGE Study AfricanAmerican Sub 32516 A=0.54905 G=0.45095
The PAGE Study Mexican Sub 10810 A=0.48612 G=0.51388
The PAGE Study Asian Sub 8318 A=0.4644 G=0.5356
The PAGE Study PuertoRican Sub 7918 A=0.4396 G=0.5604
The PAGE Study NativeHawaiian Sub 4534 A=0.4232 G=0.5768
The PAGE Study Cuban Sub 4230 A=0.4397 G=0.5603
The PAGE Study Dominican Sub 3826 A=0.4647 G=0.5353
The PAGE Study CentralAmerican Sub 2450 A=0.4984 G=0.5016
The PAGE Study SouthAmerican Sub 1982 A=0.4672 G=0.5328
The PAGE Study NativeAmerican Sub 1260 A=0.4929 G=0.5071
The PAGE Study SouthAsian Sub 856 A=0.408 G=0.592
14KJPN JAPANESE Study-wide 28258 A=0.45099 G=0.54901
8.3KJPN JAPANESE Study-wide 16760 A=0.45119 G=0.54881
GO Exome Sequencing Project Global Study-wide 13006 A=0.49193 G=0.50807
GO Exome Sequencing Project European American Sub 8600 A=0.4677 G=0.5323
GO Exome Sequencing Project African American Sub 4406 A=0.5393 G=0.4607
1000Genomes_30x Global Study-wide 6404 A=0.4710 G=0.5290
1000Genomes_30x African Sub 1786 A=0.5381 G=0.4619
1000Genomes_30x Europe Sub 1266 A=0.4502 G=0.5498
1000Genomes_30x South Asian Sub 1202 A=0.3860 G=0.6140
1000Genomes_30x East Asian Sub 1170 A=0.5094 G=0.4906
1000Genomes_30x American Sub 980 A=0.434 G=0.566
1000Genomes Global Study-wide 5008 A=0.4669 G=0.5331
1000Genomes African Sub 1322 A=0.5310 G=0.4690
1000Genomes East Asian Sub 1008 A=0.5000 G=0.5000
1000Genomes Europe Sub 1006 A=0.4523 G=0.5477
1000Genomes South Asian Sub 978 A=0.392 G=0.608
1000Genomes American Sub 694 A=0.424 G=0.576
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.5112 G=0.4888
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.4624 G=0.5376
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.4763 G=0.5237
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.4375 G=0.5625
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.4760 G=0.5240
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.504 G=0.496
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.420 G=0.580
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.357 G=0.643
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.422 G=0.578
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.533 G=0.467
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.653 G=0.347
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.71 G=0.29
HapMap Global Study-wide 1192 A=0.4807 G=0.5193
HapMap American Sub 550 A=0.464 G=0.536
HapMap Asian Sub 248 A=0.488 G=0.512
HapMap African Sub 220 A=0.550 G=0.450
HapMap Europe Sub 174 A=0.437 G=0.563
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.470 G=0.530
CNV burdens in cranial meningiomas Global Study-wide 788 A=0.463 G=0.537
CNV burdens in cranial meningiomas CRM Sub 788 A=0.463 G=0.537
A Vietnamese Genetic Variation Database Global Study-wide 612 A=0.536 G=0.464
Northern Sweden ACPOP Study-wide 600 A=0.442 G=0.558
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.378 G=0.622
SGDP_PRJ Global Study-wide 420 A=0.302 G=0.698
FINRISK Finnish from FINRISK project Study-wide 304 A=0.490 G=0.510
Qatari Global Study-wide 216 A=0.370 G=0.630
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 92 A=0.24 G=0.76
The Danish reference pan genome Danish Study-wide 40 A=0.40 G=0.60
Siberian Global Study-wide 34 A=0.32 G=0.68
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 10 NC_000010.11:g.27939936A>G
GRCh38.p14 chr 10 NC_000010.11:g.27939936A>T
GRCh37.p13 chr 10 NC_000010.10:g.28228865A>G
GRCh37.p13 chr 10 NC_000010.10:g.28228865A>T
ODAD2 RefSeqGene NG_042820.1:g.64115T>C
ODAD2 RefSeqGene NG_042820.1:g.64115T>A
Gene: ODAD2, outer dynein arm docking complex subunit 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ODAD2 transcript variant 3 NM_018076.5:c.2058T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform 1 NP_060546.2:p.Asn686= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant 3 NM_018076.5:c.2058T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform 1 NP_060546.2:p.Asn686Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant 2 NM_001290021.2:c.633T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform 2 NP_001276950.1:p.Asn211= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant 2 NM_001290021.2:c.633T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform 2 NP_001276950.1:p.Asn211Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant 4 NM_001312689.2:c.1134T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform 3 NP_001299618.1:p.Asn378= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant 4 NM_001312689.2:c.1134T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform 3 NP_001299618.1:p.Asn378Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant 1 NM_001290020.2:c.2058T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform 1 NP_001276949.1:p.Asn686= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant 1 NM_001290020.2:c.2058T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform 1 NP_001276949.1:p.Asn686Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X1 XM_024448051.2:c.2058T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X1 XP_024303819.1:p.Asn686= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X1 XM_024448051.2:c.2058T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X1 XP_024303819.1:p.Asn686Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X2 XM_024448049.2:c.2058T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X1 XP_024303817.1:p.Asn686= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X2 XM_024448049.2:c.2058T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X1 XP_024303817.1:p.Asn686Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X3 XM_024448050.2:c.2058T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X1 XP_024303818.1:p.Asn686= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X3 XM_024448050.2:c.2058T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X1 XP_024303818.1:p.Asn686Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X4 XM_024448052.2:c.2058T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X1 XP_024303820.1:p.Asn686= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X4 XM_024448052.2:c.2058T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X1 XP_024303820.1:p.Asn686Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X5 XM_024448053.2:c.2058T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X2 XP_024303821.1:p.Asn686= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X5 XM_024448053.2:c.2058T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X2 XP_024303821.1:p.Asn686Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X6 XM_011519527.2:c.2058T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X3 XP_011517829.1:p.Asn686= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X6 XM_011519527.2:c.2058T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X3 XP_011517829.1:p.Asn686Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X7 XM_047425401.1:c.2058T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X3 XP_047281357.1:p.Asn686= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X7 XM_047425401.1:c.2058T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X3 XP_047281357.1:p.Asn686Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X8 XM_047425402.1:c.2058T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X4 XP_047281358.1:p.Asn686= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X8 XM_047425402.1:c.2058T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X4 XP_047281358.1:p.Asn686Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X9 XM_047425403.1:c.2058T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X4 XP_047281359.1:p.Asn686= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X9 XM_047425403.1:c.2058T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X4 XP_047281359.1:p.Asn686Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X10 XM_047425404.1:c.2058T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X4 XP_047281360.1:p.Asn686= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X10 XM_047425404.1:c.2058T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X4 XP_047281360.1:p.Asn686Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X11 XM_047425405.1:c.1848T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X5 XP_047281361.1:p.Asn616= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X11 XM_047425405.1:c.1848T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X5 XP_047281361.1:p.Asn616Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X12 XM_047425407.1:c.1848T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X6 XP_047281363.1:p.Asn616= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X12 XM_047425407.1:c.1848T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X6 XP_047281363.1:p.Asn616Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X13 XM_047425408.1:c.1848T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X6 XP_047281364.1:p.Asn616= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X13 XM_047425408.1:c.1848T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X6 XP_047281364.1:p.Asn616Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X14 XM_047425409.1:c.1848T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X7 XP_047281365.1:p.Asn616= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X14 XM_047425409.1:c.1848T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X7 XP_047281365.1:p.Asn616Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X15 XM_047425410.1:c.1848T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X7 XP_047281366.1:p.Asn616= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X15 XM_047425410.1:c.1848T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X7 XP_047281366.1:p.Asn616Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X16 XM_047425411.1:c.1686T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X8 XP_047281367.1:p.Asn562= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X16 XM_047425411.1:c.1686T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X8 XP_047281367.1:p.Asn562Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X17 XM_047425412.1:c.1686T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X8 XP_047281368.1:p.Asn562= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X17 XM_047425412.1:c.1686T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X8 XP_047281368.1:p.Asn562Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X18 XM_047425413.1:c.1686T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X8 XP_047281369.1:p.Asn562= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X18 XM_047425413.1:c.1686T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X8 XP_047281369.1:p.Asn562Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X19 XM_047425414.1:c.1476T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X9 XP_047281370.1:p.Asn492= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X19 XM_047425414.1:c.1476T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X9 XP_047281370.1:p.Asn492Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X20 XM_024448055.2:c.1134T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X10 XP_024303823.1:p.Asn378= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X20 XM_024448055.2:c.1134T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X10 XP_024303823.1:p.Asn378Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X21 XM_024448056.2:c.1134T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X10 XP_024303824.1:p.Asn378= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X21 XM_024448056.2:c.1134T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X10 XP_024303824.1:p.Asn378Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X22 XM_024448057.2:c.972T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X11 XP_024303825.1:p.Asn324= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X22 XM_024448057.2:c.972T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X11 XP_024303825.1:p.Asn324Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X23 XM_017016371.2:c.2058T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X12 XP_016871860.1:p.Asn686= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X23 XM_017016371.2:c.2058T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X12 XP_016871860.1:p.Asn686Lys N (Asn) > K (Lys) Missense Variant
ODAD2 transcript variant X24 XM_024448058.2:c.633T>C N [AAT] > N [AAC] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X13 XP_024303826.1:p.Asn211= N (Asn) > N (Asn) Synonymous Variant
ODAD2 transcript variant X24 XM_024448058.2:c.633T>A N [AAT] > K [AAA] Coding Sequence Variant
outer dynein arm-docking complex subunit 2 isoform X13 XP_024303826.1:p.Asn211Lys N (Asn) > K (Lys) 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: G (allele ID: 253760 )
ClinVar Accession Disease Names Clinical Significance
RCV000247772.3 not specified Benign
RCV001520448.6 Primary ciliary dyskinesia 23 Benign
RCV001668558.2 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 10 NC_000010.11:g.27939936= NC_000010.11:g.27939936A>G NC_000010.11:g.27939936A>T
GRCh37.p13 chr 10 NC_000010.10:g.28228865= NC_000010.10:g.28228865A>G NC_000010.10:g.28228865A>T
ODAD2 RefSeqGene NG_042820.1:g.64115= NG_042820.1:g.64115T>C NG_042820.1:g.64115T>A
ODAD2 transcript variant 3 NM_018076.5:c.2058= NM_018076.5:c.2058T>C NM_018076.5:c.2058T>A
ARMC4 transcript variant 3 NM_018076.4:c.2058= NM_018076.4:c.2058T>C NM_018076.4:c.2058T>A
ARMC4 transcript variant 3 NM_018076.3:c.2058= NM_018076.3:c.2058T>C NM_018076.3:c.2058T>A
ARMC4 transcript NM_018076.2:c.2058= NM_018076.2:c.2058T>C NM_018076.2:c.2058T>A
ODAD2 transcript variant 1 NM_001290020.2:c.2058= NM_001290020.2:c.2058T>C NM_001290020.2:c.2058T>A
ARMC4 transcript variant 1 NM_001290020.1:c.2058= NM_001290020.1:c.2058T>C NM_001290020.1:c.2058T>A
ODAD2 transcript variant 4 NM_001312689.2:c.1134= NM_001312689.2:c.1134T>C NM_001312689.2:c.1134T>A
ARMC4 transcript variant 4 NM_001312689.1:c.1134= NM_001312689.1:c.1134T>C NM_001312689.1:c.1134T>A
ODAD2 transcript variant 2 NM_001290021.2:c.633= NM_001290021.2:c.633T>C NM_001290021.2:c.633T>A
ARMC4 transcript variant 2 NM_001290021.1:c.633= NM_001290021.1:c.633T>C NM_001290021.1:c.633T>A
ODAD2 transcript variant X3 XM_024448050.2:c.2058= XM_024448050.2:c.2058T>C XM_024448050.2:c.2058T>A
ODAD2 transcript variant X2 XM_024448050.1:c.2058= XM_024448050.1:c.2058T>C XM_024448050.1:c.2058T>A
ODAD2 transcript variant X4 XM_024448052.2:c.2058= XM_024448052.2:c.2058T>C XM_024448052.2:c.2058T>A
ODAD2 transcript variant X4 XM_024448052.1:c.2058= XM_024448052.1:c.2058T>C XM_024448052.1:c.2058T>A
ODAD2 transcript variant X2 XM_024448049.2:c.2058= XM_024448049.2:c.2058T>C XM_024448049.2:c.2058T>A
ODAD2 transcript variant X1 XM_024448049.1:c.2058= XM_024448049.1:c.2058T>C XM_024448049.1:c.2058T>A
ODAD2 transcript variant X1 XM_024448051.2:c.2058= XM_024448051.2:c.2058T>C XM_024448051.2:c.2058T>A
ODAD2 transcript variant X3 XM_024448051.1:c.2058= XM_024448051.1:c.2058T>C XM_024448051.1:c.2058T>A
ODAD2 transcript variant X5 XM_024448053.2:c.2058= XM_024448053.2:c.2058T>C XM_024448053.2:c.2058T>A
ODAD2 transcript variant X5 XM_024448053.1:c.2058= XM_024448053.1:c.2058T>C XM_024448053.1:c.2058T>A
ODAD2 transcript variant X6 XM_011519527.2:c.2058= XM_011519527.2:c.2058T>C XM_011519527.2:c.2058T>A
ODAD2 transcript variant X6 XM_011519527.1:c.2058= XM_011519527.1:c.2058T>C XM_011519527.1:c.2058T>A
ODAD2 transcript variant X20 XM_024448055.2:c.1134= XM_024448055.2:c.1134T>C XM_024448055.2:c.1134T>A
ODAD2 transcript variant X8 XM_024448055.1:c.1134= XM_024448055.1:c.1134T>C XM_024448055.1:c.1134T>A
ODAD2 transcript variant X21 XM_024448056.2:c.1134= XM_024448056.2:c.1134T>C XM_024448056.2:c.1134T>A
ODAD2 transcript variant X9 XM_024448056.1:c.1134= XM_024448056.1:c.1134T>C XM_024448056.1:c.1134T>A
ODAD2 transcript variant X22 XM_024448057.2:c.972= XM_024448057.2:c.972T>C XM_024448057.2:c.972T>A
ODAD2 transcript variant X10 XM_024448057.1:c.972= XM_024448057.1:c.972T>C XM_024448057.1:c.972T>A
ODAD2 transcript variant X24 XM_024448058.2:c.633= XM_024448058.2:c.633T>C XM_024448058.2:c.633T>A
ODAD2 transcript variant X12 XM_024448058.1:c.633= XM_024448058.1:c.633T>C XM_024448058.1:c.633T>A
ODAD2 transcript variant X23 XM_017016371.2:c.2058= XM_017016371.2:c.2058T>C XM_017016371.2:c.2058T>A
ODAD2 transcript variant X11 XM_017016371.1:c.2058= XM_017016371.1:c.2058T>C XM_017016371.1:c.2058T>A
ODAD2 transcript variant X8 XM_047425402.1:c.2058= XM_047425402.1:c.2058T>C XM_047425402.1:c.2058T>A
ODAD2 transcript variant X9 XM_047425403.1:c.2058= XM_047425403.1:c.2058T>C XM_047425403.1:c.2058T>A
ODAD2 transcript variant X17 XM_047425412.1:c.1686= XM_047425412.1:c.1686T>C XM_047425412.1:c.1686T>A
ODAD2 transcript variant X10 XM_047425404.1:c.2058= XM_047425404.1:c.2058T>C XM_047425404.1:c.2058T>A
ODAD2 transcript variant X7 XM_047425401.1:c.2058= XM_047425401.1:c.2058T>C XM_047425401.1:c.2058T>A
ODAD2 transcript variant X11 XM_047425405.1:c.1848= XM_047425405.1:c.1848T>C XM_047425405.1:c.1848T>A
ODAD2 transcript variant X12 XM_047425407.1:c.1848= XM_047425407.1:c.1848T>C XM_047425407.1:c.1848T>A
ODAD2 transcript variant X16 XM_047425411.1:c.1686= XM_047425411.1:c.1686T>C XM_047425411.1:c.1686T>A
ODAD2 transcript variant X13 XM_047425408.1:c.1848= XM_047425408.1:c.1848T>C XM_047425408.1:c.1848T>A
ODAD2 transcript variant X18 XM_047425413.1:c.1686= XM_047425413.1:c.1686T>C XM_047425413.1:c.1686T>A
ODAD2 transcript variant X14 XM_047425409.1:c.1848= XM_047425409.1:c.1848T>C XM_047425409.1:c.1848T>A
ODAD2 transcript variant X15 XM_047425410.1:c.1848= XM_047425410.1:c.1848T>C XM_047425410.1:c.1848T>A
ODAD2 transcript variant X19 XM_047425414.1:c.1476= XM_047425414.1:c.1476T>C XM_047425414.1:c.1476T>A
DKFZP434P1735 transcript NM_032150.1:c.441= NM_032150.1:c.441T>C NM_032150.1:c.441T>A
outer dynein arm-docking complex subunit 2 isoform 1 NP_060546.2:p.Asn686= NP_060546.2:p.Asn686= NP_060546.2:p.Asn686Lys
outer dynein arm-docking complex subunit 2 isoform 1 NP_001276949.1:p.Asn686= NP_001276949.1:p.Asn686= NP_001276949.1:p.Asn686Lys
outer dynein arm-docking complex subunit 2 isoform 3 NP_001299618.1:p.Asn378= NP_001299618.1:p.Asn378= NP_001299618.1:p.Asn378Lys
outer dynein arm-docking complex subunit 2 isoform 2 NP_001276950.1:p.Asn211= NP_001276950.1:p.Asn211= NP_001276950.1:p.Asn211Lys
outer dynein arm-docking complex subunit 2 isoform X1 XP_024303818.1:p.Asn686= XP_024303818.1:p.Asn686= XP_024303818.1:p.Asn686Lys
outer dynein arm-docking complex subunit 2 isoform X1 XP_024303820.1:p.Asn686= XP_024303820.1:p.Asn686= XP_024303820.1:p.Asn686Lys
outer dynein arm-docking complex subunit 2 isoform X1 XP_024303817.1:p.Asn686= XP_024303817.1:p.Asn686= XP_024303817.1:p.Asn686Lys
outer dynein arm-docking complex subunit 2 isoform X1 XP_024303819.1:p.Asn686= XP_024303819.1:p.Asn686= XP_024303819.1:p.Asn686Lys
outer dynein arm-docking complex subunit 2 isoform X2 XP_024303821.1:p.Asn686= XP_024303821.1:p.Asn686= XP_024303821.1:p.Asn686Lys
outer dynein arm-docking complex subunit 2 isoform X3 XP_011517829.1:p.Asn686= XP_011517829.1:p.Asn686= XP_011517829.1:p.Asn686Lys
outer dynein arm-docking complex subunit 2 isoform X10 XP_024303823.1:p.Asn378= XP_024303823.1:p.Asn378= XP_024303823.1:p.Asn378Lys
outer dynein arm-docking complex subunit 2 isoform X10 XP_024303824.1:p.Asn378= XP_024303824.1:p.Asn378= XP_024303824.1:p.Asn378Lys
outer dynein arm-docking complex subunit 2 isoform X11 XP_024303825.1:p.Asn324= XP_024303825.1:p.Asn324= XP_024303825.1:p.Asn324Lys
outer dynein arm-docking complex subunit 2 isoform X13 XP_024303826.1:p.Asn211= XP_024303826.1:p.Asn211= XP_024303826.1:p.Asn211Lys
outer dynein arm-docking complex subunit 2 isoform X12 XP_016871860.1:p.Asn686= XP_016871860.1:p.Asn686= XP_016871860.1:p.Asn686Lys
outer dynein arm-docking complex subunit 2 isoform X4 XP_047281358.1:p.Asn686= XP_047281358.1:p.Asn686= XP_047281358.1:p.Asn686Lys
outer dynein arm-docking complex subunit 2 isoform X4 XP_047281359.1:p.Asn686= XP_047281359.1:p.Asn686= XP_047281359.1:p.Asn686Lys
outer dynein arm-docking complex subunit 2 isoform X8 XP_047281368.1:p.Asn562= XP_047281368.1:p.Asn562= XP_047281368.1:p.Asn562Lys
outer dynein arm-docking complex subunit 2 isoform X4 XP_047281360.1:p.Asn686= XP_047281360.1:p.Asn686= XP_047281360.1:p.Asn686Lys
outer dynein arm-docking complex subunit 2 isoform X3 XP_047281357.1:p.Asn686= XP_047281357.1:p.Asn686= XP_047281357.1:p.Asn686Lys
outer dynein arm-docking complex subunit 2 isoform X5 XP_047281361.1:p.Asn616= XP_047281361.1:p.Asn616= XP_047281361.1:p.Asn616Lys
outer dynein arm-docking complex subunit 2 isoform X6 XP_047281363.1:p.Asn616= XP_047281363.1:p.Asn616= XP_047281363.1:p.Asn616Lys
outer dynein arm-docking complex subunit 2 isoform X8 XP_047281367.1:p.Asn562= XP_047281367.1:p.Asn562= XP_047281367.1:p.Asn562Lys
outer dynein arm-docking complex subunit 2 isoform X6 XP_047281364.1:p.Asn616= XP_047281364.1:p.Asn616= XP_047281364.1:p.Asn616Lys
outer dynein arm-docking complex subunit 2 isoform X8 XP_047281369.1:p.Asn562= XP_047281369.1:p.Asn562= XP_047281369.1:p.Asn562Lys
outer dynein arm-docking complex subunit 2 isoform X7 XP_047281365.1:p.Asn616= XP_047281365.1:p.Asn616= XP_047281365.1:p.Asn616Lys
outer dynein arm-docking complex subunit 2 isoform X7 XP_047281366.1:p.Asn616= XP_047281366.1:p.Asn616= XP_047281366.1:p.Asn616Lys
outer dynein arm-docking complex subunit 2 isoform X9 XP_047281370.1:p.Asn492= XP_047281370.1:p.Asn492= XP_047281370.1:p.Asn492Lys
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#.

173 SubSNP, 28 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12059260 Jul 11, 2003 (116)
2 SC_SNP ss15774007 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss16472697 Feb 27, 2004 (120)
4 SSAHASNP ss20717947 Apr 05, 2004 (121)
5 ABI ss38546602 Mar 13, 2006 (126)
6 APPLERA_GI ss48421457 Mar 13, 2006 (126)
7 ILLUMINA ss65744204 Oct 15, 2006 (127)
8 ILLUMINA ss66660431 Nov 30, 2006 (127)
9 ILLUMINA ss67844342 Nov 30, 2006 (127)
10 ILLUMINA ss67999689 Nov 30, 2006 (127)
11 ILLUMINA ss70956703 May 26, 2008 (130)
12 ILLUMINA ss71564245 May 17, 2007 (127)
13 SI_EXO ss71643317 May 17, 2007 (127)
14 ILLUMINA ss75499070 Dec 07, 2007 (129)
15 AFFY ss76426415 Dec 07, 2007 (129)
16 ILLUMINA ss79273830 Dec 16, 2007 (130)
17 KRIBB_YJKIM ss84745737 Dec 16, 2007 (130)
18 HUMANGENOME_JCVI ss97544932 Feb 06, 2009 (130)
19 1000GENOMES ss109329587 Jan 24, 2009 (130)
20 1000GENOMES ss115453003 Jan 25, 2009 (130)
21 ILLUMINA-UK ss119102171 Feb 15, 2009 (130)
22 ILLUMINA ss122857160 Dec 01, 2009 (131)
23 ENSEMBL ss138716130 Dec 01, 2009 (131)
24 ILLUMINA ss154454541 Dec 01, 2009 (131)
25 GMI ss154754693 Dec 01, 2009 (131)
26 ILLUMINA ss159629205 Dec 01, 2009 (131)
27 SEATTLESEQ ss159720237 Dec 01, 2009 (131)
28 ILLUMINA ss160926068 Dec 01, 2009 (131)
29 COMPLETE_GENOMICS ss169500608 Jul 04, 2010 (132)
30 ILLUMINA ss172364631 Jul 04, 2010 (132)
31 ILLUMINA ss174604920 Jul 04, 2010 (132)
32 BUSHMAN ss201317453 Jul 04, 2010 (132)
33 BCM-HGSC-SUB ss207285379 Jul 04, 2010 (132)
34 1000GENOMES ss224642418 Jul 14, 2010 (132)
35 1000GENOMES ss235111516 Jul 15, 2010 (132)
36 1000GENOMES ss241832284 Jul 15, 2010 (132)
37 BL ss254165967 May 09, 2011 (134)
38 GMI ss280534943 May 04, 2012 (137)
39 GMI ss286153623 Apr 25, 2013 (138)
40 PJP ss291002644 May 09, 2011 (134)
41 NHLBI-ESP ss342295188 May 09, 2011 (134)
42 ILLUMINA ss481708571 May 04, 2012 (137)
43 ILLUMINA ss481739741 May 04, 2012 (137)
44 ILLUMINA ss482706973 Sep 08, 2015 (146)
45 ILLUMINA ss485648974 May 04, 2012 (137)
46 1000GENOMES ss490994520 May 04, 2012 (137)
47 EXOME_CHIP ss491433766 May 04, 2012 (137)
48 CLINSEQ_SNP ss491622988 May 04, 2012 (137)
49 ILLUMINA ss537527538 Sep 08, 2015 (146)
50 TISHKOFF ss561860253 Apr 25, 2013 (138)
51 SSMP ss656468528 Apr 25, 2013 (138)
52 ILLUMINA ss778989672 Sep 08, 2015 (146)
53 ILLUMINA ss780791189 Sep 08, 2015 (146)
54 ILLUMINA ss783270057 Sep 08, 2015 (146)
55 ILLUMINA ss783472073 Sep 08, 2015 (146)
56 ILLUMINA ss784223281 Sep 08, 2015 (146)
57 ILLUMINA ss825604348 Apr 01, 2015 (144)
58 ILLUMINA ss832531074 Sep 08, 2015 (146)
59 ILLUMINA ss833140094 Jul 13, 2019 (153)
60 ILLUMINA ss834451912 Sep 08, 2015 (146)
61 JMKIDD_LAB ss974474259 Aug 21, 2014 (142)
62 EVA-GONL ss987331338 Aug 21, 2014 (142)
63 JMKIDD_LAB ss1067511752 Aug 21, 2014 (142)
64 JMKIDD_LAB ss1076869362 Aug 21, 2014 (142)
65 1000GENOMES ss1336805494 Aug 21, 2014 (142)
66 DDI ss1426264318 Apr 01, 2015 (144)
67 EVA_GENOME_DK ss1575005957 Apr 01, 2015 (144)
68 EVA_FINRISK ss1584067425 Apr 01, 2015 (144)
69 EVA_DECODE ss1596993448 Apr 01, 2015 (144)
70 EVA_UK10K_ALSPAC ss1624266243 Apr 01, 2015 (144)
71 EVA_UK10K_TWINSUK ss1667260276 Apr 01, 2015 (144)
72 EVA_EXAC ss1689857663 Apr 01, 2015 (144)
73 EVA_MGP ss1711251091 Apr 01, 2015 (144)
74 EVA_SVP ss1713168502 Apr 01, 2015 (144)
75 ILLUMINA ss1751964163 Sep 08, 2015 (146)
76 ILLUMINA ss1751964164 Sep 08, 2015 (146)
77 HAMMER_LAB ss1806320792 Sep 08, 2015 (146)
78 ILLUMINA ss1917845774 Feb 12, 2016 (147)
79 WEILL_CORNELL_DGM ss1930664368 Feb 12, 2016 (147)
80 ILLUMINA ss1946279157 Feb 12, 2016 (147)
81 ILLUMINA ss1959250334 Feb 12, 2016 (147)
82 GENOMED ss1967091305 Jul 19, 2016 (147)
83 JJLAB ss2026060981 Sep 14, 2016 (149)
84 USC_VALOUEV ss2154307093 Dec 20, 2016 (150)
85 HUMAN_LONGEVITY ss2173715596 Dec 20, 2016 (150)
86 ILLUMINA ss2632693535 Nov 08, 2017 (151)
87 GRF ss2698539672 Nov 08, 2017 (151)
88 GNOMAD ss2738176912 Nov 08, 2017 (151)
89 GNOMAD ss2748366361 Nov 08, 2017 (151)
90 GNOMAD ss2886987936 Nov 08, 2017 (151)
91 AFFY ss2984908937 Nov 08, 2017 (151)
92 SWEGEN ss3006159388 Nov 08, 2017 (151)
93 ILLUMINA ss3021226655 Nov 08, 2017 (151)
94 EVA_SAMSUNG_MC ss3023065421 Nov 08, 2017 (151)
95 BIOINF_KMB_FNS_UNIBA ss3026816946 Nov 08, 2017 (151)
96 CSHL ss3349028206 Nov 08, 2017 (151)
97 ILLUMINA ss3626417279 Oct 12, 2018 (152)
98 ILLUMINA ss3626417280 Oct 12, 2018 (152)
99 ILLUMINA ss3630720397 Oct 12, 2018 (152)
100 ILLUMINA ss3632944253 Oct 12, 2018 (152)
101 ILLUMINA ss3633641142 Oct 12, 2018 (152)
102 ILLUMINA ss3634397158 Oct 12, 2018 (152)
103 ILLUMINA ss3634397159 Oct 12, 2018 (152)
104 ILLUMINA ss3635333807 Oct 12, 2018 (152)
105 ILLUMINA ss3636078062 Oct 12, 2018 (152)
106 ILLUMINA ss3637084423 Oct 12, 2018 (152)
107 ILLUMINA ss3637842082 Oct 12, 2018 (152)
108 ILLUMINA ss3638936925 Oct 12, 2018 (152)
109 ILLUMINA ss3639467939 Oct 12, 2018 (152)
110 ILLUMINA ss3640104500 Oct 12, 2018 (152)
111 ILLUMINA ss3640104501 Oct 12, 2018 (152)
112 ILLUMINA ss3642846113 Oct 12, 2018 (152)
113 ILLUMINA ss3644531863 Oct 12, 2018 (152)
114 OMUKHERJEE_ADBS ss3646404284 Oct 12, 2018 (152)
115 URBANLAB ss3649323017 Oct 12, 2018 (152)
116 ILLUMINA ss3651577011 Oct 12, 2018 (152)
117 ILLUMINA ss3653679001 Oct 12, 2018 (152)
118 EGCUT_WGS ss3673680803 Jul 13, 2019 (153)
119 EVA_DECODE ss3689550287 Jul 13, 2019 (153)
120 ILLUMINA ss3725146709 Jul 13, 2019 (153)
121 ACPOP ss3737181169 Jul 13, 2019 (153)
122 ILLUMINA ss3744365613 Jul 13, 2019 (153)
123 ILLUMINA ss3744698066 Jul 13, 2019 (153)
124 ILLUMINA ss3744698067 Jul 13, 2019 (153)
125 EVA ss3747912307 Jul 13, 2019 (153)
126 PAGE_CC ss3771550525 Jul 13, 2019 (153)
127 ILLUMINA ss3772198673 Jul 13, 2019 (153)
128 ILLUMINA ss3772198674 Jul 13, 2019 (153)
129 PACBIO ss3786622816 Jul 13, 2019 (153)
130 PACBIO ss3791810095 Jul 13, 2019 (153)
131 PACBIO ss3796692089 Jul 13, 2019 (153)
132 KHV_HUMAN_GENOMES ss3813276268 Jul 13, 2019 (153)
133 EVA ss3824509430 Apr 26, 2020 (154)
134 EVA ss3825526287 Apr 26, 2020 (154)
135 EVA ss3825773415 Apr 26, 2020 (154)
136 EVA ss3832040177 Apr 26, 2020 (154)
137 EVA ss3839552574 Apr 26, 2020 (154)
138 EVA ss3845019918 Apr 26, 2020 (154)
139 HGDP ss3847380946 Apr 26, 2020 (154)
140 SGDP_PRJ ss3873823962 Apr 26, 2020 (154)
141 KRGDB ss3921794219 Apr 26, 2020 (154)
142 FSA-LAB ss3983975250 Apr 26, 2021 (155)
143 EVA ss3984631961 Apr 26, 2021 (155)
144 EVA ss3985466786 Apr 26, 2021 (155)
145 EVA ss3986049539 Apr 26, 2021 (155)
146 EVA ss3986480018 Apr 26, 2021 (155)
147 EVA ss4017478172 Apr 26, 2021 (155)
148 TOPMED ss4846886120 Apr 26, 2021 (155)
149 TOMMO_GENOMICS ss5196865360 Apr 26, 2021 (155)
150 EVA ss5236882878 Apr 26, 2021 (155)
151 EVA ss5237208218 Apr 26, 2021 (155)
152 1000G_HIGH_COVERAGE ss5283395448 Oct 16, 2022 (156)
153 EVA ss5315462705 Oct 16, 2022 (156)
154 EVA ss5392436917 Oct 16, 2022 (156)
155 HUGCELL_USP ss5479118985 Oct 16, 2022 (156)
156 EVA ss5509951049 Oct 16, 2022 (156)
157 1000G_HIGH_COVERAGE ss5577005924 Oct 16, 2022 (156)
158 EVA ss5623948907 Oct 16, 2022 (156)
159 EVA ss5624007725 Oct 16, 2022 (156)
160 SANFORD_IMAGENETICS ss5648947990 Oct 16, 2022 (156)
161 TOMMO_GENOMICS ss5741892558 Oct 16, 2022 (156)
162 EVA ss5799808270 Oct 16, 2022 (156)
163 EVA ss5800061532 Oct 16, 2022 (156)
164 EVA ss5800158391 Oct 16, 2022 (156)
165 YY_MCH ss5811319565 Oct 16, 2022 (156)
166 EVA ss5824164997 Oct 16, 2022 (156)
167 EVA ss5847591409 Oct 16, 2022 (156)
168 EVA ss5848296094 Oct 16, 2022 (156)
169 EVA ss5849498239 Oct 16, 2022 (156)
170 EVA ss5878272284 Oct 16, 2022 (156)
171 EVA ss5936544203 Oct 16, 2022 (156)
172 EVA ss5940241213 Oct 16, 2022 (156)
173 EVA ss5980604078 Oct 16, 2022 (156)
174 1000Genomes NC_000010.10 - 28228865 Oct 12, 2018 (152)
175 1000Genomes_30x NC_000010.11 - 27939936 Oct 16, 2022 (156)
176 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 28228865 Oct 12, 2018 (152)
177 Genetic variation in the Estonian population NC_000010.10 - 28228865 Oct 12, 2018 (152)
178 ExAC NC_000010.10 - 28228865 Oct 12, 2018 (152)
179 FINRISK NC_000010.10 - 28228865 Apr 26, 2020 (154)
180 The Danish reference pan genome NC_000010.10 - 28228865 Apr 26, 2020 (154)
181 gnomAD - Genomes NC_000010.11 - 27939936 Apr 26, 2021 (155)
182 gnomAD - Exomes NC_000010.10 - 28228865 Jul 13, 2019 (153)
183 GO Exome Sequencing Project NC_000010.10 - 28228865 Oct 12, 2018 (152)
184 Genome of the Netherlands Release 5 NC_000010.10 - 28228865 Apr 26, 2020 (154)
185 HGDP-CEPH-db Supplement 1 NC_000010.9 - 28268871 Apr 26, 2020 (154)
186 HapMap NC_000010.11 - 27939936 Apr 26, 2020 (154)
187 KOREAN population from KRGDB NC_000010.10 - 28228865 Apr 26, 2020 (154)
188 Medical Genome Project healthy controls from Spanish population NC_000010.10 - 28228865 Apr 26, 2020 (154)
189 Northern Sweden NC_000010.10 - 28228865 Jul 13, 2019 (153)
190 The PAGE Study NC_000010.11 - 27939936 Jul 13, 2019 (153)
191 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000010.10 - 28228865 Apr 26, 2021 (155)
192 CNV burdens in cranial meningiomas NC_000010.10 - 28228865 Apr 26, 2021 (155)
193 Qatari NC_000010.10 - 28228865 Apr 26, 2020 (154)
194 SGDP_PRJ NC_000010.10 - 28228865 Apr 26, 2020 (154)
195 Siberian NC_000010.10 - 28228865 Apr 26, 2020 (154)
196 8.3KJPN NC_000010.10 - 28228865 Apr 26, 2021 (155)
197 14KJPN NC_000010.11 - 27939936 Oct 16, 2022 (156)
198 TopMed NC_000010.11 - 27939936 Apr 26, 2021 (155)
199 UK 10K study - Twins NC_000010.10 - 28228865 Oct 12, 2018 (152)
200 A Vietnamese Genetic Variation Database NC_000010.10 - 28228865 Jul 13, 2019 (153)
201 ALFA NC_000010.11 - 27939936 Apr 26, 2021 (155)
202 ClinVar RCV000247772.3 Oct 16, 2022 (156)
203 ClinVar RCV001520448.6 Oct 16, 2022 (156)
204 ClinVar RCV001668558.2 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)
rs61313524 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3638936925, ss3639467939 NC_000010.8:28268870:A:G NC_000010.11:27939935:A:G (self)
58838, ss109329587, ss115453003, ss119102171, ss169500608, ss201317453, ss207285379, ss254165967, ss280534943, ss286153623, ss291002644, ss481708571, ss491622988, ss825604348, ss1596993448, ss1713168502, ss3642846113, ss3847380946 NC_000010.9:28268870:A:G NC_000010.11:27939935:A:G (self)
49171048, 27321862, 19419051, 75336, 63886, 2088676, 7373612, 967154, 12181268, 28971613, 366851, 10466034, 692713, 181419, 12706298, 25840942, 6823447, 54834667, 27321862, 6067004, ss224642418, ss235111516, ss241832284, ss342295188, ss481739741, ss482706973, ss485648974, ss490994520, ss491433766, ss537527538, ss561860253, ss656468528, ss778989672, ss780791189, ss783270057, ss783472073, ss784223281, ss832531074, ss833140094, ss834451912, ss974474259, ss987331338, ss1067511752, ss1076869362, ss1336805494, ss1426264318, ss1575005957, ss1584067425, ss1624266243, ss1667260276, ss1689857663, ss1711251091, ss1751964163, ss1751964164, ss1806320792, ss1917845774, ss1930664368, ss1946279157, ss1959250334, ss1967091305, ss2026060981, ss2154307093, ss2632693535, ss2698539672, ss2738176912, ss2748366361, ss2886987936, ss2984908937, ss3006159388, ss3021226655, ss3023065421, ss3349028206, ss3626417279, ss3626417280, ss3630720397, ss3632944253, ss3633641142, ss3634397158, ss3634397159, ss3635333807, ss3636078062, ss3637084423, ss3637842082, ss3640104500, ss3640104501, ss3644531863, ss3646404284, ss3651577011, ss3653679001, ss3673680803, ss3737181169, ss3744365613, ss3744698066, ss3744698067, ss3747912307, ss3772198673, ss3772198674, ss3786622816, ss3791810095, ss3796692089, ss3824509430, ss3825526287, ss3825773415, ss3832040177, ss3839552574, ss3873823962, ss3921794219, ss3983975250, ss3984631961, ss3985466786, ss3986049539, ss3986480018, ss4017478172, ss5196865360, ss5315462705, ss5392436917, ss5509951049, ss5623948907, ss5624007725, ss5648947990, ss5799808270, ss5800061532, ss5800158391, ss5824164997, ss5847591409, ss5848296094, ss5936544203, ss5940241213, ss5980604078 NC_000010.10:28228864:A:G NC_000010.11:27939935:A:G (self)
RCV000247772.3, RCV001520448.6, RCV001668558.2, 64531859, 347209467, 369166, 771994, 75729662, 62431775, 8332346546, ss2173715596, ss3026816946, ss3649323017, ss3689550287, ss3725146709, ss3771550525, ss3813276268, ss3845019918, ss4846886120, ss5236882878, ss5237208218, ss5283395448, ss5479118985, ss5577005924, ss5741892558, ss5811319565, ss5849498239, ss5878272284 NC_000010.11:27939935:A:G NC_000010.11:27939935:A:G (self)
ss12059260 NT_008705.14:10204189:A:G NC_000010.11:27939935:A:G (self)
ss15774007, ss16472697, ss20717947, ss71643317 NT_008705.15:10204189:A:G NC_000010.11:27939935:A:G (self)
ss38546602, ss48421457, ss65744204, ss66660431, ss67844342, ss67999689, ss70956703, ss71564245, ss75499070, ss76426415, ss79273830, ss84745737, ss97544932, ss122857160, ss138716130, ss154454541, ss154754693, ss159629205, ss159720237, ss160926068, ss172364631, ss174604920 NT_008705.16:28168864:A:G NC_000010.11:27939935:A:G (self)
8332346546 NC_000010.11:27939935:A:T NC_000010.11:27939935: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.

2 citations for rs7893462
PMID Title Author Year Journal
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical 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
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