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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.

rs17001890

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:76384193 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.240217 (67584/281346, ALFA)
G=0.245676 (65028/264690, TOPMED)
G=0.214734 (53535/249308, GnomAD_exome) (+ 25 more)
G=0.255148 (35732/140044, GnomAD)
G=0.219249 (26466/120712, ExAC)
G=0.21788 (17146/78694, PAGE_STUDY)
G=0.08153 (2304/28258, 14KJPN)
G=0.08222 (1378/16760, 8.3KJPN)
G=0.26627 (3184/11958, GO-ESP)
G=0.2267 (1452/6404, 1000G_30x)
G=0.2268 (1136/5008, 1000G)
G=0.1790 (802/4480, Estonian)
G=0.2410 (929/3854, ALSPAC)
G=0.2557 (948/3708, TWINSUK)
G=0.0431 (126/2922, KOREAN)
G=0.0442 (81/1832, Korea1K)
G=0.239 (239/998, GoNL)
G=0.033 (26/788, PRJEB37584)
G=0.059 (36/614, Vietnamese)
G=0.197 (118/600, NorthernSweden)
G=0.262 (140/534, MGP)
G=0.244 (77/316, HapMap)
G=0.240 (73/304, FINRISK)
G=0.389 (84/216, Qatari)
A=0.432 (76/176, SGDP_PRJ)
G=0.30 (12/40, GENOME_DK)
A=0.50 (7/14, Siberian)
G=0.50 (7/14, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CCDC158 : Synonymous Variant
Publications
0 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 302490 A=0.758947 G=0.241053
European Sub 259452 A=0.755993 G=0.244007
African Sub 13414 A=0.69882 G=0.30118
African Others Sub 508 A=0.679 G=0.321
African American Sub 12906 A=0.69960 G=0.30040
Asian Sub 3916 A=0.9543 G=0.0457
East Asian Sub 3154 A=0.9578 G=0.0422
Other Asian Sub 762 A=0.940 G=0.060
Latin American 1 Sub 1380 A=0.7471 G=0.2529
Latin American 2 Sub 6606 A=0.8783 G=0.1217
South Asian Sub 366 A=0.781 G=0.219
Other Sub 17356 A=0.76054 G=0.23946


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 281346 A=0.759783 G=0.240217
Allele Frequency Aggregator European Sub 246504 A=0.755416 G=0.244584
Allele Frequency Aggregator Other Sub 15122 A=0.76088 G=0.23912
Allele Frequency Aggregator African Sub 7452 A=0.6961 G=0.3039
Allele Frequency Aggregator Latin American 2 Sub 6606 A=0.8783 G=0.1217
Allele Frequency Aggregator Asian Sub 3916 A=0.9543 G=0.0457
Allele Frequency Aggregator Latin American 1 Sub 1380 A=0.7471 G=0.2529
Allele Frequency Aggregator South Asian Sub 366 A=0.781 G=0.219
TopMed Global Study-wide 264690 A=0.754324 G=0.245676
gnomAD - Exomes Global Study-wide 249308 A=0.785266 G=0.214734
gnomAD - Exomes European Sub 134604 A=0.757087 G=0.242913
gnomAD - Exomes Asian Sub 48574 A=0.82355 G=0.17645
gnomAD - Exomes American Sub 34522 A=0.88407 G=0.11593
gnomAD - Exomes African Sub 15486 A=0.68643 G=0.31357
gnomAD - Exomes Ashkenazi Jewish Sub 10070 A=0.79027 G=0.20973
gnomAD - Exomes Other Sub 6052 A=0.7857 G=0.2143
gnomAD - Genomes Global Study-wide 140044 A=0.744852 G=0.255148
gnomAD - Genomes European Sub 75860 A=0.75191 G=0.24809
gnomAD - Genomes African Sub 41930 A=0.69015 G=0.30985
gnomAD - Genomes American Sub 13648 A=0.81096 G=0.18904
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=0.7952 G=0.2048
gnomAD - Genomes East Asian Sub 3132 A=0.9553 G=0.0447
gnomAD - Genomes Other Sub 2154 A=0.7586 G=0.2414
ExAC Global Study-wide 120712 A=0.780751 G=0.219249
ExAC Europe Sub 73316 A=0.76180 G=0.23820
ExAC Asian Sub 25132 A=0.81856 G=0.18144
ExAC American Sub 11570 A=0.89879 G=0.10121
ExAC African Sub 9796 A=0.6844 G=0.3156
ExAC Other Sub 898 A=0.801 G=0.199
The PAGE Study Global Study-wide 78694 A=0.78212 G=0.21788
The PAGE Study AfricanAmerican Sub 32510 A=0.69748 G=0.30252
The PAGE Study Mexican Sub 10808 A=0.87204 G=0.12796
The PAGE Study Asian Sub 8318 A=0.9222 G=0.0778
The PAGE Study PuertoRican Sub 7918 A=0.7794 G=0.2206
The PAGE Study NativeHawaiian Sub 4534 A=0.9109 G=0.0891
The PAGE Study Cuban Sub 4230 A=0.7600 G=0.2400
The PAGE Study Dominican Sub 3828 A=0.7296 G=0.2704
The PAGE Study CentralAmerican Sub 2450 A=0.8535 G=0.1465
The PAGE Study SouthAmerican Sub 1982 A=0.8638 G=0.1362
The PAGE Study NativeAmerican Sub 1260 A=0.8016 G=0.1984
The PAGE Study SouthAsian Sub 856 A=0.765 G=0.235
14KJPN JAPANESE Study-wide 28258 A=0.91847 G=0.08153
8.3KJPN JAPANESE Study-wide 16760 A=0.91778 G=0.08222
GO Exome Sequencing Project Global Study-wide 11958 A=0.73373 G=0.26627
GO Exome Sequencing Project European American Sub 8220 A=0.7494 G=0.2506
GO Exome Sequencing Project African American Sub 3738 A=0.6993 G=0.3007
1000Genomes_30x Global Study-wide 6404 A=0.7733 G=0.2267
1000Genomes_30x African Sub 1786 A=0.6585 G=0.3415
1000Genomes_30x Europe Sub 1266 A=0.7488 G=0.2512
1000Genomes_30x South Asian Sub 1202 A=0.7596 G=0.2404
1000Genomes_30x East Asian Sub 1170 A=0.9248 G=0.0752
1000Genomes_30x American Sub 980 A=0.850 G=0.150
1000Genomes Global Study-wide 5008 A=0.7732 G=0.2268
1000Genomes African Sub 1322 A=0.6573 G=0.3427
1000Genomes East Asian Sub 1008 A=0.9276 G=0.0724
1000Genomes Europe Sub 1006 A=0.7435 G=0.2565
1000Genomes South Asian Sub 978 A=0.753 G=0.247
1000Genomes American Sub 694 A=0.841 G=0.159
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8210 G=0.1790
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.7590 G=0.2410
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.7443 G=0.2557
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.9569 G=0.0431
Korean Genome Project KOREAN Study-wide 1832 A=0.9558 G=0.0442
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.761 G=0.239
CNV burdens in cranial meningiomas Global Study-wide 788 A=0.967 G=0.033
CNV burdens in cranial meningiomas CRM Sub 788 A=0.967 G=0.033
A Vietnamese Genetic Variation Database Global Study-wide 614 A=0.941 G=0.059
Northern Sweden ACPOP Study-wide 600 A=0.803 G=0.197
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.738 G=0.262
HapMap Global Study-wide 316 A=0.756 G=0.244
HapMap African Sub 116 A=0.716 G=0.284
HapMap American Sub 114 A=0.711 G=0.289
HapMap Asian Sub 86 A=0.87 G=0.13
FINRISK Finnish from FINRISK project Study-wide 304 A=0.760 G=0.240
Qatari Global Study-wide 216 A=0.611 G=0.389
SGDP_PRJ Global Study-wide 176 A=0.432 G=0.568
The Danish reference pan genome Danish Study-wide 40 A=0.70 G=0.30
Siberian Global Study-wide 14 A=0.50 G=0.50
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 4 NC_000004.12:g.76384193A>G
GRCh37.p13 chr 4 NC_000004.11:g.77305346A>G
Gene: CCDC158, coiled-coil domain containing 158 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CCDC158 transcript variant 2 NM_001042784.1:c.621T>C H [CAT] > H [CAC] Coding Sequence Variant
coiled-coil domain-containing protein 158 isoform 2 NP_001036249.1:p.His207= H (His) > H (His) Synonymous Variant
CCDC158 transcript variant 1 NM_001394954.1:c.621T>C H [CAT] > H [CAC] Coding Sequence Variant
coiled-coil domain-containing protein 158 isoform 1 NP_001381883.1:p.His207= H (His) > H (His) Synonymous Variant
CCDC158 transcript variant X7 XM_011531913.1:c.621T>C H [CAT] > H [CAC] Coding Sequence Variant
coiled-coil domain-containing protein 158 isoform X1 XP_011530215.1:p.His207= H (His) > H (His) Synonymous Variant
CCDC158 transcript variant X1 XM_011531910.4:c.621T>C H [CAT] > H [CAC] Coding Sequence Variant
coiled-coil domain-containing protein 158 isoform X1 XP_011530212.1:p.His207= H (His) > H (His) Synonymous Variant
CCDC158 transcript variant X2 XM_011531911.2:c.621T>C H [CAT] > H [CAC] Coding Sequence Variant
coiled-coil domain-containing protein 158 isoform X1 XP_011530213.1:p.His207= H (His) > H (His) Synonymous Variant
CCDC158 transcript variant X3 XM_011531908.3:c.621T>C H [CAT] > H [CAC] Coding Sequence Variant
coiled-coil domain-containing protein 158 isoform X1 XP_011530210.1:p.His207= H (His) > H (His) Synonymous Variant
CCDC158 transcript variant X4 XM_011531909.3:c.621T>C H [CAT] > H [CAC] Coding Sequence Variant
coiled-coil domain-containing protein 158 isoform X1 XP_011530211.1:p.His207= H (His) > H (His) Synonymous Variant
CCDC158 transcript variant X5 XM_017008160.2:c.621T>C H [CAT] > H [CAC] Coding Sequence Variant
coiled-coil domain-containing protein 158 isoform X1 XP_016863649.1:p.His207= H (His) > H (His) Synonymous Variant
CCDC158 transcript variant X6 XM_011531912.3:c.621T>C H [CAT] > H [CAC] Coding Sequence Variant
coiled-coil domain-containing protein 158 isoform X1 XP_011530214.1:p.His207= H (His) > H (His) Synonymous Variant
CCDC158 transcript variant X8 XM_011531914.3:c.621T>C H [CAT] > H [CAC] Coding Sequence Variant
coiled-coil domain-containing protein 158 isoform X1 XP_011530216.1:p.His207= H (His) > H (His) Synonymous Variant
CCDC158 transcript variant X9 XM_005262974.5:c.621T>C H [CAT] > H [CAC] Coding Sequence Variant
coiled-coil domain-containing protein 158 isoform X2 XP_005263031.1:p.His207= H (His) > H (His) Synonymous Variant
CCDC158 transcript variant X10 XM_011531915.3:c.621T>C H [CAT] > H [CAC] Coding Sequence Variant
coiled-coil domain-containing protein 158 isoform X3 XP_011530217.1:p.His207= H (His) > H (His) Synonymous Variant
CCDC158 transcript variant X11 XM_011531917.2:c.375T>C H [CAT] > H [CAC] Coding Sequence Variant
coiled-coil domain-containing protein 158 isoform X4 XP_011530219.1:p.His125= H (His) > H (His) Synonymous Variant
CCDC158 transcript variant X12 XR_938729.3:n.914T>C N/A Non Coding Transcript Variant
CCDC158 transcript variant X13 XR_938730.3:n.914T>C N/A Non Coding 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.

Not Reported in ClinVar
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
GRCh38.p14 chr 4 NC_000004.12:g.76384193= NC_000004.12:g.76384193A>G
GRCh37.p13 chr 4 NC_000004.11:g.77305346= NC_000004.11:g.77305346A>G
CCDC158 transcript variant X9 XM_005262974.5:c.621= XM_005262974.5:c.621T>C
CCDC158 transcript variant X10 XM_005262974.4:c.621= XM_005262974.4:c.621T>C
CCDC158 transcript variant X9 XM_005262974.3:c.621= XM_005262974.3:c.621T>C
CCDC158 transcript variant X1 XM_005262974.2:c.621= XM_005262974.2:c.621T>C
CCDC158 transcript variant X1 XM_005262974.1:c.621= XM_005262974.1:c.621T>C
CCDC158 transcript variant X1 XM_011531910.4:c.621= XM_011531910.4:c.621T>C
CCDC158 transcript variant X4 XM_011531910.3:c.621= XM_011531910.3:c.621T>C
CCDC158 transcript variant X4 XM_011531910.2:c.621= XM_011531910.2:c.621T>C
CCDC158 transcript variant X4 XM_011531910.1:c.621= XM_011531910.1:c.621T>C
CCDC158 transcript variant X3 XM_011531908.3:c.621= XM_011531908.3:c.621T>C
CCDC158 transcript variant X2 XM_011531908.2:c.621= XM_011531908.2:c.621T>C
CCDC158 transcript variant X2 XM_011531908.1:c.621= XM_011531908.1:c.621T>C
CCDC158 transcript variant X4 XM_011531909.3:c.621= XM_011531909.3:c.621T>C
CCDC158 transcript variant X3 XM_011531909.2:c.621= XM_011531909.2:c.621T>C
CCDC158 transcript variant X3 XM_011531909.1:c.621= XM_011531909.1:c.621T>C
CCDC158 transcript variant X8 XM_011531914.3:c.621= XM_011531914.3:c.621T>C
CCDC158 transcript variant X9 XM_011531914.2:c.621= XM_011531914.2:c.621T>C
CCDC158 transcript variant X8 XM_011531914.1:c.621= XM_011531914.1:c.621T>C
CCDC158 transcript variant X10 XM_011531915.3:c.621= XM_011531915.3:c.621T>C
CCDC158 transcript variant X11 XM_011531915.2:c.621= XM_011531915.2:c.621T>C
CCDC158 transcript variant X10 XM_011531915.1:c.621= XM_011531915.1:c.621T>C
CCDC158 transcript variant X6 XM_011531912.3:c.621= XM_011531912.3:c.621T>C
CCDC158 transcript variant X6 XM_011531912.2:c.621= XM_011531912.2:c.621T>C
CCDC158 transcript variant X6 XM_011531912.1:c.621= XM_011531912.1:c.621T>C
CCDC158 transcript variant X12 XR_938729.3:n.914= XR_938729.3:n.914T>C
CCDC158 transcript variant X14 XR_938729.2:n.901= XR_938729.2:n.901T>C
CCDC158 transcript variant X14 XR_938729.1:n.897= XR_938729.1:n.897T>C
CCDC158 transcript variant X13 XR_938730.3:n.914= XR_938730.3:n.914T>C
CCDC158 transcript variant X15 XR_938730.2:n.902= XR_938730.2:n.902T>C
CCDC158 transcript variant X15 XR_938730.1:n.898= XR_938730.1:n.898T>C
FLJ25770 transcript variant 2 NM_178555.3:c.621= NM_178555.3:c.621T>C
CCDC158 transcript variant X5 XM_017008160.2:c.621= XM_017008160.2:c.621T>C
CCDC158 transcript variant X5 XM_017008160.1:c.621= XM_017008160.1:c.621T>C
CCDC158 transcript variant X2 XM_011531911.2:c.621= XM_011531911.2:c.621T>C
CCDC158 transcript variant X7 XM_011531911.1:c.621= XM_011531911.1:c.621T>C
CCDC158 transcript variant X11 XM_011531917.2:c.375= XM_011531917.2:c.375T>C
CCDC158 transcript variant X13 XM_011531917.1:c.375= XM_011531917.1:c.375T>C
FLJ25770 transcript NM_178555.2:c.621C>T NM_178555.2:c.621=
CCDC158 transcript variant 1 NM_001394954.1:c.621= NM_001394954.1:c.621T>C
CCDC158 transcript variant X7 XM_011531913.1:c.621= XM_011531913.1:c.621T>C
CCDC158 transcript variant 2 NM_001042784.1:c.621= NM_001042784.1:c.621T>C
LOC339965 transcript NM_178555.1:c.258C>T NM_178555.1:c.258=
coiled-coil domain-containing protein 158 isoform X2 XP_005263031.1:p.His207= XP_005263031.1:p.His207=
coiled-coil domain-containing protein 158 isoform X1 XP_011530212.1:p.His207= XP_011530212.1:p.His207=
coiled-coil domain-containing protein 158 isoform X1 XP_011530210.1:p.His207= XP_011530210.1:p.His207=
coiled-coil domain-containing protein 158 isoform X1 XP_011530211.1:p.His207= XP_011530211.1:p.His207=
coiled-coil domain-containing protein 158 isoform X1 XP_011530216.1:p.His207= XP_011530216.1:p.His207=
coiled-coil domain-containing protein 158 isoform X3 XP_011530217.1:p.His207= XP_011530217.1:p.His207=
coiled-coil domain-containing protein 158 isoform X1 XP_011530214.1:p.His207= XP_011530214.1:p.His207=
coiled-coil domain-containing protein 158 isoform X1 XP_016863649.1:p.His207= XP_016863649.1:p.His207=
coiled-coil domain-containing protein 158 isoform X1 XP_011530213.1:p.His207= XP_011530213.1:p.His207=
coiled-coil domain-containing protein 158 isoform X4 XP_011530219.1:p.His125= XP_011530219.1:p.His125=
coiled-coil domain-containing protein 158 isoform 1 NP_001381883.1:p.His207= NP_001381883.1:p.His207=
coiled-coil domain-containing protein 158 isoform X1 XP_011530215.1:p.His207= XP_011530215.1:p.His207=
coiled-coil domain-containing protein 158 isoform 2 NP_001036249.1:p.His207= NP_001036249.1:p.His207=
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#.

128 SubSNP, 27 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss23276338 Sep 20, 2004 (123)
2 AFFY ss74819539 Aug 16, 2007 (128)
3 BCMHGSC_JDW ss92650585 Mar 24, 2008 (129)
4 1000GENOMES ss108061085 Jan 22, 2009 (130)
5 ENSEMBL ss139706084 Dec 01, 2009 (131)
6 SEATTLESEQ ss159707869 Dec 01, 2009 (131)
7 ILLUMINA ss160409020 Dec 01, 2009 (131)
8 COMPLETE_GENOMICS ss162255263 Jul 04, 2010 (132)
9 BUSHMAN ss198721457 Jul 04, 2010 (132)
10 1000GENOMES ss221010572 Jul 14, 2010 (132)
11 1000GENOMES ss232453399 Jul 14, 2010 (132)
12 1000GENOMES ss239733891 Jul 15, 2010 (132)
13 BL ss253261330 May 09, 2011 (134)
14 GMI ss284939084 Apr 25, 2013 (138)
15 ILLUMINA ss480139416 May 04, 2012 (137)
16 ILLUMINA ss480148605 May 04, 2012 (137)
17 ILLUMINA ss480852871 Sep 08, 2015 (146)
18 ILLUMINA ss484867703 May 04, 2012 (137)
19 1000GENOMES ss490889809 May 04, 2012 (137)
20 CLINSEQ_SNP ss491856039 May 04, 2012 (137)
21 ILLUMINA ss536931417 Sep 08, 2015 (146)
22 TISHKOFF ss557614926 Apr 25, 2013 (138)
23 SSMP ss651423834 Apr 25, 2013 (138)
24 NHLBI-ESP ss712598540 Apr 25, 2013 (138)
25 ILLUMINA ss778695982 Aug 21, 2014 (142)
26 ILLUMINA ss782880275 Aug 21, 2014 (142)
27 ILLUMINA ss783844061 Aug 21, 2014 (142)
28 ILLUMINA ss832134589 Apr 01, 2015 (144)
29 ILLUMINA ss834154810 Aug 21, 2014 (142)
30 JMKIDD_LAB ss974452983 Aug 21, 2014 (142)
31 EVA-GONL ss980277006 Aug 21, 2014 (142)
32 JMKIDD_LAB ss1067462209 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1071660906 Aug 21, 2014 (142)
34 1000GENOMES ss1310348662 Aug 21, 2014 (142)
35 DDI ss1429932922 Apr 01, 2015 (144)
36 EVA_GENOME_DK ss1580622239 Apr 01, 2015 (144)
37 EVA_FINRISK ss1584034883 Apr 01, 2015 (144)
38 EVA_DECODE ss1589776331 Apr 01, 2015 (144)
39 EVA_UK10K_ALSPAC ss1610396873 Apr 01, 2015 (144)
40 EVA_UK10K_TWINSUK ss1653390906 Apr 01, 2015 (144)
41 EVA_EXAC ss1687539784 Apr 01, 2015 (144)
42 EVA_MGP ss1711063760 Apr 01, 2015 (144)
43 ILLUMINA ss1752532286 Sep 08, 2015 (146)
44 HAMMER_LAB ss1801685490 Sep 08, 2015 (146)
45 WEILL_CORNELL_DGM ss1923519877 Feb 12, 2016 (147)
46 ILLUMINA ss1946119533 Feb 12, 2016 (147)
47 ILLUMINA ss1958694981 Feb 12, 2016 (147)
48 JJLAB ss2022345788 Sep 14, 2016 (149)
49 USC_VALOUEV ss2150474317 Dec 20, 2016 (150)
50 HUMAN_LONGEVITY ss2264095031 Dec 20, 2016 (150)
51 SYSTEMSBIOZJU ss2625673583 Nov 08, 2017 (151)
52 ILLUMINA ss2634136416 Nov 08, 2017 (151)
53 GRF ss2705948314 Nov 08, 2017 (151)
54 ILLUMINA ss2711008140 Nov 08, 2017 (151)
55 GNOMAD ss2734581122 Nov 08, 2017 (151)
56 GNOMAD ss2747258745 Nov 08, 2017 (151)
57 GNOMAD ss2811037601 Nov 08, 2017 (151)
58 AFFY ss2985295546 Nov 08, 2017 (151)
59 SWEGEN ss2994950268 Nov 08, 2017 (151)
60 ILLUMINA ss3022385767 Nov 08, 2017 (151)
61 BIOINF_KMB_FNS_UNIBA ss3024947586 Nov 08, 2017 (151)
62 CSHL ss3345789961 Nov 08, 2017 (151)
63 ILLUMINA ss3625846424 Oct 12, 2018 (152)
64 ILLUMINA ss3628994156 Oct 12, 2018 (152)
65 ILLUMINA ss3632071830 Oct 12, 2018 (152)
66 ILLUMINA ss3633338777 Oct 12, 2018 (152)
67 ILLUMINA ss3634057914 Oct 12, 2018 (152)
68 ILLUMINA ss3634957411 Oct 12, 2018 (152)
69 ILLUMINA ss3635740746 Oct 12, 2018 (152)
70 ILLUMINA ss3636661099 Oct 12, 2018 (152)
71 ILLUMINA ss3637493268 Oct 12, 2018 (152)
72 ILLUMINA ss3640664705 Oct 12, 2018 (152)
73 ILLUMINA ss3641164463 Oct 12, 2018 (152)
74 ILLUMINA ss3641461325 Oct 12, 2018 (152)
75 ILLUMINA ss3644852321 Oct 12, 2018 (152)
76 OMUKHERJEE_ADBS ss3646309275 Oct 12, 2018 (152)
77 ILLUMINA ss3652870988 Oct 12, 2018 (152)
78 ILLUMINA ss3654066988 Oct 12, 2018 (152)
79 EGCUT_WGS ss3662833517 Jul 13, 2019 (153)
80 EVA_DECODE ss3712346374 Jul 13, 2019 (153)
81 ILLUMINA ss3726144060 Jul 13, 2019 (153)
82 ACPOP ss3731284565 Jul 13, 2019 (153)
83 ILLUMINA ss3744236535 Jul 13, 2019 (153)
84 ILLUMINA ss3745257675 Jul 13, 2019 (153)
85 EVA ss3761981459 Jul 13, 2019 (153)
86 PAGE_CC ss3771133070 Jul 13, 2019 (153)
87 ILLUMINA ss3772752275 Jul 13, 2019 (153)
88 KHV_HUMAN_GENOMES ss3805123501 Jul 13, 2019 (153)
89 EVA ss3824025740 Apr 26, 2020 (154)
90 EVA ss3825659390 Apr 26, 2020 (154)
91 EVA ss3828621678 Apr 26, 2020 (154)
92 EVA ss3837752525 Apr 26, 2020 (154)
93 EVA ss3843189998 Apr 26, 2020 (154)
94 SGDP_PRJ ss3859277192 Apr 26, 2020 (154)
95 KRGDB ss3905535537 Apr 26, 2020 (154)
96 KOGIC ss3954456087 Apr 26, 2020 (154)
97 FSA-LAB ss3984286765 Apr 26, 2021 (155)
98 FSA-LAB ss3984286766 Apr 26, 2021 (155)
99 EVA ss3984530107 Apr 26, 2021 (155)
100 EVA ss3986283600 Apr 26, 2021 (155)
101 EVA ss4017152152 Apr 26, 2021 (155)
102 TOPMED ss4619071262 Apr 26, 2021 (155)
103 TOMMO_GENOMICS ss5166385160 Apr 26, 2021 (155)
104 EVA ss5237007195 Apr 26, 2021 (155)
105 EVA ss5237351408 Apr 26, 2021 (155)
106 1000G_HIGH_COVERAGE ss5259734667 Oct 13, 2022 (156)
107 EVA ss5314967650 Oct 13, 2022 (156)
108 EVA ss5349967007 Oct 13, 2022 (156)
109 HUGCELL_USP ss5458435277 Oct 13, 2022 (156)
110 EVA ss5507577750 Oct 13, 2022 (156)
111 1000G_HIGH_COVERAGE ss5541105100 Oct 13, 2022 (156)
112 EVA ss5623929746 Oct 13, 2022 (156)
113 EVA ss5624140313 Oct 13, 2022 (156)
114 SANFORD_IMAGENETICS ss5624558892 Oct 13, 2022 (156)
115 SANFORD_IMAGENETICS ss5635345010 Oct 13, 2022 (156)
116 TOMMO_GENOMICS ss5700917779 Oct 13, 2022 (156)
117 EVA ss5799423002 Oct 13, 2022 (156)
118 EVA ss5799618374 Oct 13, 2022 (156)
119 EVA ss5800116165 Oct 13, 2022 (156)
120 YY_MCH ss5805219831 Oct 13, 2022 (156)
121 EVA ss5844203889 Oct 13, 2022 (156)
122 EVA ss5847245281 Oct 13, 2022 (156)
123 EVA ss5848014485 Oct 13, 2022 (156)
124 EVA ss5848611152 Oct 13, 2022 (156)
125 EVA ss5854291104 Oct 13, 2022 (156)
126 EVA ss5864046107 Oct 13, 2022 (156)
127 EVA ss5963722962 Oct 13, 2022 (156)
128 EVA ss5979704206 Oct 13, 2022 (156)
129 1000Genomes NC_000004.11 - 77305346 Oct 12, 2018 (152)
130 1000Genomes_30x NC_000004.12 - 76384193 Oct 13, 2022 (156)
131 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 77305346 Oct 12, 2018 (152)
132 Genetic variation in the Estonian population NC_000004.11 - 77305346 Oct 12, 2018 (152)
133 ExAC NC_000004.11 - 77305346 Oct 12, 2018 (152)
134 FINRISK NC_000004.11 - 77305346 Apr 26, 2020 (154)
135 The Danish reference pan genome NC_000004.11 - 77305346 Apr 26, 2020 (154)
136 gnomAD - Genomes NC_000004.12 - 76384193 Apr 26, 2021 (155)
137 gnomAD - Exomes NC_000004.11 - 77305346 Jul 13, 2019 (153)
138 GO Exome Sequencing Project NC_000004.11 - 77305346 Oct 12, 2018 (152)
139 Genome of the Netherlands Release 5 NC_000004.11 - 77305346 Apr 26, 2020 (154)
140 HapMap NC_000004.12 - 76384193 Apr 26, 2020 (154)
141 KOREAN population from KRGDB NC_000004.11 - 77305346 Apr 26, 2020 (154)
142 Korean Genome Project NC_000004.12 - 76384193 Apr 26, 2020 (154)
143 Medical Genome Project healthy controls from Spanish population NC_000004.11 - 77305346 Apr 26, 2020 (154)
144 Northern Sweden NC_000004.11 - 77305346 Jul 13, 2019 (153)
145 The PAGE Study NC_000004.12 - 76384193 Jul 13, 2019 (153)
146 CNV burdens in cranial meningiomas NC_000004.11 - 77305346 Apr 26, 2021 (155)
147 Qatari NC_000004.11 - 77305346 Apr 26, 2020 (154)
148 SGDP_PRJ NC_000004.11 - 77305346 Apr 26, 2020 (154)
149 Siberian NC_000004.11 - 77305346 Apr 26, 2020 (154)
150 8.3KJPN NC_000004.11 - 77305346 Apr 26, 2021 (155)
151 14KJPN NC_000004.12 - 76384193 Oct 13, 2022 (156)
152 TopMed NC_000004.12 - 76384193 Apr 26, 2021 (155)
153 UK 10K study - Twins NC_000004.11 - 77305346 Oct 12, 2018 (152)
154 A Vietnamese Genetic Variation Database NC_000004.11 - 77305346 Jul 13, 2019 (153)
155 ALFA NC_000004.12 - 76384193 Apr 26, 2021 (155)
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)
rs52803058 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss92650585, ss108061085, ss160409020, ss162255263, ss198721457, ss253261330, ss284939084, ss480139416, ss491856039, ss1589776331 NC_000004.10:77524369:A:G NC_000004.12:76384192:A:G (self)
21766072, 12099766, 8571765, 7507817, 31344, 6787178, 3686375, 483948, 5344638, 12712931, 179520, 4569430, 79467, 5561807, 11294172, 2990671, 24354467, 12099766, 2664786, ss221010572, ss232453399, ss239733891, ss480148605, ss480852871, ss484867703, ss490889809, ss536931417, ss557614926, ss651423834, ss712598540, ss778695982, ss782880275, ss783844061, ss832134589, ss834154810, ss974452983, ss980277006, ss1067462209, ss1071660906, ss1310348662, ss1429932922, ss1580622239, ss1584034883, ss1610396873, ss1653390906, ss1687539784, ss1711063760, ss1752532286, ss1801685490, ss1923519877, ss1946119533, ss1958694981, ss2022345788, ss2150474317, ss2625673583, ss2634136416, ss2705948314, ss2711008140, ss2734581122, ss2747258745, ss2811037601, ss2985295546, ss2994950268, ss3022385767, ss3345789961, ss3625846424, ss3628994156, ss3632071830, ss3633338777, ss3634057914, ss3634957411, ss3635740746, ss3636661099, ss3637493268, ss3640664705, ss3641164463, ss3641461325, ss3644852321, ss3646309275, ss3652870988, ss3654066988, ss3662833517, ss3731284565, ss3744236535, ss3745257675, ss3761981459, ss3772752275, ss3824025740, ss3825659390, ss3828621678, ss3837752525, ss3859277192, ss3905535537, ss3984286765, ss3984286766, ss3984530107, ss3986283600, ss4017152152, ss5166385160, ss5237351408, ss5314967650, ss5349967007, ss5507577750, ss5623929746, ss5624140313, ss5624558892, ss5635345010, ss5799423002, ss5799618374, ss5800116165, ss5844203889, ss5847245281, ss5848014485, ss5848611152, ss5963722962, ss5979704206 NC_000004.11:77305345:A:G NC_000004.12:76384192:A:G (self)
28631035, 154184547, 2641389, 10834088, 354539, 34754883, 456448818, 3209795524, ss2264095031, ss3024947586, ss3712346374, ss3726144060, ss3771133070, ss3805123501, ss3843189998, ss3954456087, ss4619071262, ss5237007195, ss5259734667, ss5458435277, ss5541105100, ss5700917779, ss5805219831, ss5854291104, ss5864046107 NC_000004.12:76384192:A:G NC_000004.12:76384192:A:G (self)
ss23276338, ss74819539, ss139706084, ss159707869 NT_016354.19:1853066:A:G NC_000004.12:76384192:A:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs17001890

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