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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.

rs138366708

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:41756202 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000759 (201/264690, TOPMED)
C=0.000239 (60/250970, GnomAD_exome)
C=0.000065 (11/168710, ALFA) (+ 10 more)
C=0.000742 (104/140166, GnomAD)
C=0.000315 (37/117588, ExAC)
C=0.00137 (108/78700, PAGE_STUDY)
C=0.00081 (23/28258, 14KJPN)
C=0.00107 (18/16760, 8.3KJPN)
C=0.00100 (13/13006, GO-ESP)
C=0.0017 (11/6404, 1000G_30x)
C=0.0022 (11/5008, 1000G)
C=0.0003 (1/2922, KOREAN)
C=0.0005 (1/1832, Korea1K)
Clinical Significance
Reported in ClinVar
Gene : Consequence
JUP : Missense Variant
Publications
1 citation
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 185122 T=0.999870 C=0.000130
European Sub 157032 T=0.999994 C=0.000006
African Sub 9168 T=0.9977 C=0.0023
African Others Sub 352 T=0.994 C=0.006
African American Sub 8816 T=0.9978 C=0.0022
Asian Sub 6258 T=1.0000 C=0.0000
East Asian Sub 4440 T=1.0000 C=0.0000
Other Asian Sub 1818 T=1.0000 C=0.0000
Latin American 1 Sub 442 T=1.000 C=0.000
Latin American 2 Sub 948 T=1.000 C=0.000
South Asian Sub 274 T=1.000 C=0.000
Other Sub 11000 T=0.99982 C=0.00018


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
TopMed Global Study-wide 264690 T=0.999241 C=0.000759
gnomAD - Exomes Global Study-wide 250970 T=0.999761 C=0.000239
gnomAD - Exomes European Sub 135176 T=0.999993 C=0.000007
gnomAD - Exomes Asian Sub 48916 T=0.99998 C=0.00002
gnomAD - Exomes American Sub 34520 T=0.99983 C=0.00017
gnomAD - Exomes African Sub 16174 T=0.99685 C=0.00315
gnomAD - Exomes Ashkenazi Jewish Sub 10054 T=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6130 T=0.9998 C=0.0002
Allele Frequency Aggregator Total Global 168710 T=0.999935 C=0.000065
Allele Frequency Aggregator European Sub 146892 T=0.999993 C=0.000007
Allele Frequency Aggregator Other Sub 9566 T=1.0000 C=0.0000
Allele Frequency Aggregator Asian Sub 6258 T=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 4330 T=0.9977 C=0.0023
Allele Frequency Aggregator Latin American 2 Sub 948 T=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 442 T=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 274 T=1.000 C=0.000
gnomAD - Genomes Global Study-wide 140166 T=0.999258 C=0.000742
gnomAD - Genomes European Sub 75924 T=1.00000 C=0.00000
gnomAD - Genomes African Sub 41988 T=0.99755 C=0.00245
gnomAD - Genomes American Sub 13652 T=0.99993 C=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3128 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2150 T=1.0000 C=0.0000
ExAC Global Study-wide 117588 T=0.999685 C=0.000315
ExAC Europe Sub 71670 T=0.99999 C=0.00001
ExAC Asian Sub 24124 T=1.00000 C=0.00000
ExAC American Sub 11046 T=0.99982 C=0.00018
ExAC African Sub 9856 T=0.9966 C=0.0034
ExAC Other Sub 892 T=1.000 C=0.000
The PAGE Study Global Study-wide 78700 T=0.99863 C=0.00137
The PAGE Study AfricanAmerican Sub 32514 T=0.99748 C=0.00252
The PAGE Study Mexican Sub 10810 T=0.99981 C=0.00019
The PAGE Study Asian Sub 8318 T=0.9989 C=0.0011
The PAGE Study PuertoRican Sub 7918 T=0.9990 C=0.0010
The PAGE Study NativeHawaiian Sub 4534 T=0.9996 C=0.0004
The PAGE Study Cuban Sub 4230 T=0.9998 C=0.0002
The PAGE Study Dominican Sub 3828 T=0.9995 C=0.0005
The PAGE Study CentralAmerican Sub 2450 T=0.9996 C=0.0004
The PAGE Study SouthAmerican Sub 1982 T=1.0000 C=0.0000
The PAGE Study NativeAmerican Sub 1260 T=0.9992 C=0.0008
The PAGE Study SouthAsian Sub 856 T=1.000 C=0.000
14KJPN JAPANESE Study-wide 28258 T=0.99919 C=0.00081
8.3KJPN JAPANESE Study-wide 16760 T=0.99893 C=0.00107
GO Exome Sequencing Project Global Study-wide 13006 T=0.99900 C=0.00100
GO Exome Sequencing Project European American Sub 8600 T=1.0000 C=0.0000
GO Exome Sequencing Project African American Sub 4406 T=0.9970 C=0.0030
1000Genomes_30x Global Study-wide 6404 T=0.9983 C=0.0017
1000Genomes_30x African Sub 1786 T=0.9938 C=0.0062
1000Genomes_30x Europe Sub 1266 T=1.0000 C=0.0000
1000Genomes_30x South Asian Sub 1202 T=1.0000 C=0.0000
1000Genomes_30x East Asian Sub 1170 T=1.0000 C=0.0000
1000Genomes_30x American Sub 980 T=1.000 C=0.000
1000Genomes Global Study-wide 5008 T=0.9978 C=0.0022
1000Genomes African Sub 1322 T=0.9917 C=0.0083
1000Genomes East Asian Sub 1008 T=1.0000 C=0.0000
1000Genomes Europe Sub 1006 T=1.0000 C=0.0000
1000Genomes South Asian Sub 978 T=1.000 C=0.000
1000Genomes American Sub 694 T=1.000 C=0.000
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9997 C=0.0003
Korean Genome Project KOREAN Study-wide 1832 T=0.9995 C=0.0005
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 17 NC_000017.11:g.41756202T>C
GRCh37.p13 chr 17 NC_000017.10:g.39912454T>C
JUP RefSeqGene (LRG_401) NG_009090.2:g.35511A>G
GRCh37.p13 chr 17 fix patch HG185_PATCH NW_003571052.1:g.42844T>C
Gene: JUP, junction plakoglobin (minus strand)
Molecule type Change Amino acid[Codon] SO Term
JUP transcript variant 1 NM_002230.4:c.2059A>G I [ATT] > V [GTT] Coding Sequence Variant
junction plakoglobin NP_002221.1:p.Ile687Val I (Ile) > V (Val) Missense Variant
JUP transcript variant 6 NM_001352776.2:c.2059A>G I [ATT] > V [GTT] Coding Sequence Variant
junction plakoglobin NP_001339705.1:p.Ile687Val I (Ile) > V (Val) Missense Variant
JUP transcript variant 3 NM_001352773.2:c.2059A>G I [ATT] > V [GTT] Coding Sequence Variant
junction plakoglobin NP_001339702.1:p.Ile687Val I (Ile) > V (Val) Missense Variant
JUP transcript variant 2 NM_021991.4:c.2059A>G I [ATT] > V [GTT] Coding Sequence Variant
junction plakoglobin NP_068831.1:p.Ile687Val I (Ile) > V (Val) Missense Variant
JUP transcript variant 5 NM_001352775.2:c.2059A>G I [ATT] > V [GTT] Coding Sequence Variant
junction plakoglobin NP_001339704.1:p.Ile687Val I (Ile) > V (Val) Missense Variant
JUP transcript variant 4 NM_001352774.2:c.2059A>G I [ATT] > V [GTT] Coding Sequence Variant
junction plakoglobin NP_001339703.1:p.Ile687Val I (Ile) > V (Val) Missense Variant
JUP transcript variant 7 NM_001352777.2:c.2059A>G I [ATT] > V [GTT] Coding Sequence Variant
junction plakoglobin NP_001339706.1:p.Ile687Val I (Ile) > V (Val) Missense Variant
JUP transcript variant X1 XM_047435934.1:c.2110A>G I [ATT] > V [GTT] Coding Sequence Variant
junction plakoglobin isoform X1 XP_047291890.1:p.Ile704Val I (Ile) > V (Val) Missense Variant
JUP transcript variant X8 XM_047435935.1:c.2110A>G I [ATT] > V [GTT] Coding Sequence Variant
junction plakoglobin isoform X1 XP_047291891.1:p.Ile704Val I (Ile) > V (Val) Missense Variant
JUP transcript variant X2 XM_047435937.1:c.2110A>G I [ATT] > V [GTT] Coding Sequence Variant
junction plakoglobin isoform X1 XP_047291893.1:p.Ile704Val I (Ile) > V (Val) Missense Variant
JUP transcript variant X3 XM_006721874.4:c.2059A>G I [ATT] > V [GTT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_006721937.1:p.Ile687Val I (Ile) > V (Val) Missense Variant
JUP transcript variant X6 XM_006721875.2:c.2059A>G I [ATT] > V [GTT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_006721938.1:p.Ile687Val I (Ile) > V (Val) Missense Variant
JUP transcript variant X4 XM_011524758.2:c.2059A>G I [ATT] > V [GTT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_011523060.1:p.Ile687Val I (Ile) > V (Val) Missense Variant
JUP transcript variant X9 XM_047435938.1:c.2059A>G I [ATT] > V [GTT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291894.1:p.Ile687Val I (Ile) > V (Val) Missense Variant
JUP transcript variant X10 XM_047435939.1:c.2059A>G I [ATT] > V [GTT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291895.1:p.Ile687Val I (Ile) > V (Val) Missense Variant
JUP transcript variant X7 XM_047435940.1:c.2059A>G I [ATT] > V [GTT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291896.1:p.Ile687Val I (Ile) > V (Val) Missense Variant
JUP transcript variant X11 XM_047435941.1:c.2059A>G I [ATT] > V [GTT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291897.1:p.Ile687Val I (Ile) > V (Val) Missense Variant
JUP transcript variant X12 XM_047435942.1:c.2059A>G I [ATT] > V [GTT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291898.1:p.Ile687Val I (Ile) > V (Val) Missense Variant
JUP transcript variant X5 XM_017024590.2:c.2059A>G I [ATT] > V [GTT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_016880079.1:p.Ile687Val I (Ile) > V (Val) Missense Variant
Help

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

Allele: C (allele ID: 55009 )
ClinVar Accession Disease Names Clinical Significance
RCV000039074.10 not specified Benign
RCV000534009.8 Arrhythmogenic right ventricular dysplasia 12,Naxos disease Likely-Benign
RCV000852717.1 Cardiomyopathy,Hypertrophic cardiomyopathy Benign
RCV001719757.2 not provided Likely-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 T= C
GRCh38.p14 chr 17 NC_000017.11:g.41756202= NC_000017.11:g.41756202T>C
GRCh37.p13 chr 17 NC_000017.10:g.39912454= NC_000017.10:g.39912454T>C
JUP RefSeqGene (LRG_401) NG_009090.2:g.35511= NG_009090.2:g.35511A>G
JUP transcript variant 1 NM_002230.4:c.2059= NM_002230.4:c.2059A>G
JUP transcript variant 1 NM_002230.3:c.2059= NM_002230.3:c.2059A>G
JUP transcript variant 1 NM_002230.2:c.2059= NM_002230.2:c.2059A>G
JUP transcript variant 2 NM_021991.4:c.2059= NM_021991.4:c.2059A>G
JUP transcript variant 2 NM_021991.3:c.2059= NM_021991.3:c.2059A>G
JUP transcript variant 2 NM_021991.2:c.2059= NM_021991.2:c.2059A>G
JUP transcript variant 3 NM_001352773.2:c.2059= NM_001352773.2:c.2059A>G
JUP transcript variant 3 NM_001352773.1:c.2059= NM_001352773.1:c.2059A>G
JUP transcript variant 6 NM_001352776.2:c.2059= NM_001352776.2:c.2059A>G
JUP transcript variant 6 NM_001352776.1:c.2059= NM_001352776.1:c.2059A>G
JUP transcript variant 5 NM_001352775.2:c.2059= NM_001352775.2:c.2059A>G
JUP transcript variant 5 NM_001352775.1:c.2059= NM_001352775.1:c.2059A>G
JUP transcript variant 4 NM_001352774.2:c.2059= NM_001352774.2:c.2059A>G
JUP transcript variant 4 NM_001352774.1:c.2059= NM_001352774.1:c.2059A>G
JUP transcript variant 7 NM_001352777.2:c.2059= NM_001352777.2:c.2059A>G
JUP transcript variant 7 NM_001352777.1:c.2059= NM_001352777.1:c.2059A>G
GRCh37.p13 chr 17 fix patch HG185_PATCH NW_003571052.1:g.42844= NW_003571052.1:g.42844T>C
JUP transcript variant X3 XM_006721874.4:c.2059= XM_006721874.4:c.2059A>G
JUP transcript variant X2 XM_006721874.3:c.2059= XM_006721874.3:c.2059A>G
JUP transcript variant X3 XM_006721874.2:c.2059= XM_006721874.2:c.2059A>G
JUP transcript variant X1 XM_006721874.1:c.2059= XM_006721874.1:c.2059A>G
JUP transcript variant X6 XM_006721875.2:c.2059= XM_006721875.2:c.2059A>G
JUP transcript variant X5 XM_006721875.1:c.2059= XM_006721875.1:c.2059A>G
JUP transcript variant X5 XM_017024590.2:c.2059= XM_017024590.2:c.2059A>G
JUP transcript variant X7 XM_017024590.1:c.2059= XM_017024590.1:c.2059A>G
JUP transcript variant X4 XM_011524758.2:c.2059= XM_011524758.2:c.2059A>G
JUP transcript variant X6 XM_011524758.1:c.2059= XM_011524758.1:c.2059A>G
JUP transcript variant X11 XM_047435941.1:c.2059= XM_047435941.1:c.2059A>G
JUP transcript variant X8 XM_047435935.1:c.2110= XM_047435935.1:c.2110A>G
JUP transcript variant X1 XM_047435934.1:c.2110= XM_047435934.1:c.2110A>G
JUP transcript variant X2 XM_047435937.1:c.2110= XM_047435937.1:c.2110A>G
JUP transcript variant X10 XM_047435939.1:c.2059= XM_047435939.1:c.2059A>G
JUP transcript variant X7 XM_047435940.1:c.2059= XM_047435940.1:c.2059A>G
JUP transcript variant X12 XM_047435942.1:c.2059= XM_047435942.1:c.2059A>G
JUP transcript variant X9 XM_047435938.1:c.2059= XM_047435938.1:c.2059A>G
junction plakoglobin NP_002221.1:p.Ile687= NP_002221.1:p.Ile687Val
junction plakoglobin NP_068831.1:p.Ile687= NP_068831.1:p.Ile687Val
junction plakoglobin NP_001339702.1:p.Ile687= NP_001339702.1:p.Ile687Val
junction plakoglobin NP_001339705.1:p.Ile687= NP_001339705.1:p.Ile687Val
junction plakoglobin NP_001339704.1:p.Ile687= NP_001339704.1:p.Ile687Val
junction plakoglobin NP_001339703.1:p.Ile687= NP_001339703.1:p.Ile687Val
junction plakoglobin NP_001339706.1:p.Ile687= NP_001339706.1:p.Ile687Val
junction plakoglobin isoform X2 XP_006721937.1:p.Ile687= XP_006721937.1:p.Ile687Val
junction plakoglobin isoform X2 XP_006721938.1:p.Ile687= XP_006721938.1:p.Ile687Val
junction plakoglobin isoform X2 XP_016880079.1:p.Ile687= XP_016880079.1:p.Ile687Val
junction plakoglobin isoform X2 XP_011523060.1:p.Ile687= XP_011523060.1:p.Ile687Val
junction plakoglobin isoform X2 XP_047291897.1:p.Ile687= XP_047291897.1:p.Ile687Val
junction plakoglobin isoform X1 XP_047291891.1:p.Ile704= XP_047291891.1:p.Ile704Val
junction plakoglobin isoform X1 XP_047291890.1:p.Ile704= XP_047291890.1:p.Ile704Val
junction plakoglobin isoform X1 XP_047291893.1:p.Ile704= XP_047291893.1:p.Ile704Val
junction plakoglobin isoform X2 XP_047291895.1:p.Ile687= XP_047291895.1:p.Ile687Val
junction plakoglobin isoform X2 XP_047291896.1:p.Ile687= XP_047291896.1:p.Ile687Val
junction plakoglobin isoform X2 XP_047291898.1:p.Ile687= XP_047291898.1:p.Ile687Val
junction plakoglobin isoform X2 XP_047291894.1:p.Ile687= XP_047291894.1:p.Ile687Val
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#.

44 SubSNP, 13 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss339694013 May 09, 2011 (134)
2 NHLBI-ESP ss342454039 May 09, 2011 (134)
3 1000GENOMES ss491123737 May 04, 2012 (137)
4 EXOME_CHIP ss491522493 May 04, 2012 (137)
5 ILLUMINA ss534872925 Sep 11, 2015 (146)
6 WARNICH_LAB ss678420750 Apr 25, 2013 (138)
7 1000GENOMES ss1358638420 Aug 21, 2014 (142)
8 EVA_EXAC ss1692777632 Apr 09, 2015 (144)
9 ILLUMINA ss1752225384 Sep 11, 2015 (146)
10 ILLUMINA ss1917918373 Feb 17, 2016 (147)
11 ILLUMINA ss1946447224 Feb 17, 2016 (147)
12 ILLUMINA ss1959746409 Feb 17, 2016 (147)
13 HUMAN_LONGEVITY ss2216806900 Dec 20, 2016 (150)
14 GNOMAD ss2742714404 Oct 12, 2018 (152)
15 GNOMAD ss2749774091 Oct 12, 2018 (152)
16 GNOMAD ss2949814735 Oct 12, 2018 (152)
17 AFFY ss2985095399 Oct 12, 2018 (152)
18 ILLUMINA ss3021779457 Oct 12, 2018 (152)
19 ILLUMINA ss3627668631 Oct 12, 2018 (152)
20 ILLUMINA ss3634674917 Oct 12, 2018 (152)
21 ILLUMINA ss3640382230 Oct 12, 2018 (152)
22 ILLUMINA ss3644688017 Oct 12, 2018 (152)
23 ILLUMINA ss3652195520 Oct 12, 2018 (152)
24 ILLUMINA ss3653867214 Oct 12, 2018 (152)
25 ILLUMINA ss3725621047 Jul 13, 2019 (153)
26 ILLUMINA ss3744443664 Jul 13, 2019 (153)
27 ILLUMINA ss3744975214 Jul 13, 2019 (153)
28 PAGE_CC ss3771927394 Jul 13, 2019 (153)
29 ILLUMINA ss3772473100 Jul 13, 2019 (153)
30 EVA ss3825113769 Apr 27, 2020 (154)
31 KRGDB ss3935422609 Apr 27, 2020 (154)
32 KOGIC ss3978831847 Apr 27, 2020 (154)
33 GNOMAD ss4311494366 Apr 26, 2021 (155)
34 TOPMED ss5035822440 Apr 26, 2021 (155)
35 TOMMO_GENOMICS ss5222392097 Apr 26, 2021 (155)
36 1000G_HIGH_COVERAGE ss5303117649 Oct 16, 2022 (156)
37 EVA ss5427567224 Oct 16, 2022 (156)
38 HUGCELL_USP ss5496175551 Oct 16, 2022 (156)
39 1000G_HIGH_COVERAGE ss5606830637 Oct 16, 2022 (156)
40 SANFORD_IMAGENETICS ss5660096183 Oct 16, 2022 (156)
41 TOMMO_GENOMICS ss5778591218 Oct 16, 2022 (156)
42 EVA ss5847797234 Oct 16, 2022 (156)
43 EVA ss5913942013 Oct 16, 2022 (156)
44 EVA ss5951489837 Oct 16, 2022 (156)
45 1000Genomes NC_000017.10 - 39912454 Oct 12, 2018 (152)
46 1000Genomes_30x NC_000017.11 - 41756202 Oct 16, 2022 (156)
47 ExAC NC_000017.10 - 39912454 Oct 12, 2018 (152)
48 gnomAD - Genomes NC_000017.11 - 41756202 Apr 26, 2021 (155)
49 gnomAD - Exomes NC_000017.10 - 39912454 Jul 13, 2019 (153)
50 GO Exome Sequencing Project NC_000017.10 - 39912454 Oct 12, 2018 (152)
51 KOREAN population from KRGDB NC_000017.10 - 39912454 Apr 27, 2020 (154)
52 Korean Genome Project NC_000017.11 - 41756202 Apr 27, 2020 (154)
53 The PAGE Study NC_000017.11 - 41756202 Jul 13, 2019 (153)
54 8.3KJPN NC_000017.10 - 39912454 Apr 26, 2021 (155)
55 14KJPN NC_000017.11 - 41756202 Oct 16, 2022 (156)
56 TopMed NC_000017.11 - 41756202 Apr 26, 2021 (155)
57 ALFA NC_000017.11 - 41756202 Apr 26, 2021 (155)
58 ClinVar RCV000039074.10 Oct 16, 2022 (156)
59 ClinVar RCV000534009.8 Oct 16, 2022 (156)
60 ClinVar RCV000852717.1 Apr 27, 2020 (154)
61 ClinVar RCV001719757.2 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
71879398, 3220971, 12018844, 1570872, 42600003, 80361404, ss339694013, ss342454039, ss491123737, ss491522493, ss534872925, ss678420750, ss1358638420, ss1692777632, ss1752225384, ss1917918373, ss1946447224, ss1959746409, ss2742714404, ss2749774091, ss2949814735, ss2985095399, ss3021779457, ss3627668631, ss3634674917, ss3640382230, ss3644688017, ss3652195520, ss3653867214, ss3744443664, ss3744975214, ss3772473100, ss3825113769, ss3935422609, ss5222392097, ss5427567224, ss5660096183, ss5847797234, ss5951489837 NC_000017.10:39912453:T:C NC_000017.11:41756201:T:C (self)
RCV000039074.10, RCV000534009.8, RCV000852717.1, RCV001719757.2, 94356572, 507100764, 35209848, 1148863, 112428322, 251368102, 13969431267, ss2216806900, ss3725621047, ss3771927394, ss3978831847, ss4311494366, ss5035822440, ss5303117649, ss5496175551, ss5606830637, ss5778591218, ss5913942013 NC_000017.11:41756201:T:C NC_000017.11:41756201:T:C (self)
Help

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

1 citation for rs138366708
PMID Title Author Year Journal
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
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