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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs13096302

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:2285880 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.480509 (127186/264690, TOPMED)
G=0.485899 (67952/139848, GnomAD)
C=0.45704 (12915/28258, 14KJPN) (+ 18 more)
C=0.49064 (8858/18054, ALFA)
C=0.45662 (7653/16760, 8.3KJPN)
G=0.4939 (3163/6404, 1000G_30x)
C=0.4974 (2491/5008, 1000G)
C=0.4335 (1942/4480, Estonian)
C=0.4593 (1770/3854, ALSPAC)
C=0.4792 (1777/3708, TWINSUK)
C=0.4724 (1384/2930, KOREAN)
C=0.5000 (916/1832, Korea1K)
G=0.5000 (916/1832, Korea1K)
C=0.460 (459/998, GoNL)
G=0.428 (257/600, NorthernSweden)
C=0.282 (119/422, SGDP_PRJ)
G=0.489 (136/278, HapMap)
G=0.472 (102/216, Qatari)
C=0.491 (104/212, Vietnamese)
C=0.33 (15/46, Siberian)
C=0.40 (16/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CNTN4 : Intron 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 18054 C=0.49064 G=0.50936, T=0.00000
European Sub 13758 C=0.45915 G=0.54085, T=0.00000
African Sub 2642 C=0.6923 G=0.3077, T=0.0000
African Others Sub 96 C=0.74 G=0.26, T=0.00
African American Sub 2546 C=0.6905 G=0.3095, T=0.0000
Asian Sub 112 C=0.473 G=0.527, T=0.000
East Asian Sub 86 C=0.50 G=0.50, T=0.00
Other Asian Sub 26 C=0.38 G=0.62, T=0.00
Latin American 1 Sub 146 C=0.527 G=0.473, T=0.000
Latin American 2 Sub 610 C=0.348 G=0.652, T=0.000
South Asian Sub 98 C=0.35 G=0.65, T=0.00
Other Sub 688 C=0.488 G=0.512, T=0.000


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 C=0.519491 G=0.480509
gnomAD - Genomes Global Study-wide 139848 C=0.514101 G=0.485899
gnomAD - Genomes European Sub 75750 C=0.45831 G=0.54169
gnomAD - Genomes African Sub 41914 C=0.64468 G=0.35532
gnomAD - Genomes American Sub 13596 C=0.44013 G=0.55987
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.4844 G=0.5156
gnomAD - Genomes East Asian Sub 3126 C=0.4795 G=0.5205
gnomAD - Genomes Other Sub 2138 C=0.4981 G=0.5019
14KJPN JAPANESE Study-wide 28258 C=0.45704 G=0.54296
Allele Frequency Aggregator Total Global 18054 C=0.49064 G=0.50936, T=0.00000
Allele Frequency Aggregator European Sub 13758 C=0.45915 G=0.54085, T=0.00000
Allele Frequency Aggregator African Sub 2642 C=0.6923 G=0.3077, T=0.0000
Allele Frequency Aggregator Other Sub 688 C=0.488 G=0.512, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 C=0.348 G=0.652, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=0.527 G=0.473, T=0.000
Allele Frequency Aggregator Asian Sub 112 C=0.473 G=0.527, T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=0.35 G=0.65, T=0.00
8.3KJPN JAPANESE Study-wide 16760 C=0.45662 G=0.54338
1000Genomes_30x Global Study-wide 6404 C=0.5061 G=0.4939
1000Genomes_30x African Sub 1786 C=0.7021 G=0.2979
1000Genomes_30x Europe Sub 1266 C=0.4889 G=0.5111
1000Genomes_30x South Asian Sub 1202 C=0.3619 G=0.6381
1000Genomes_30x East Asian Sub 1170 C=0.4624 G=0.5376
1000Genomes_30x American Sub 980 C=0.400 G=0.600
1000Genomes Global Study-wide 5008 C=0.4974 G=0.5026
1000Genomes African Sub 1322 C=0.6989 G=0.3011
1000Genomes East Asian Sub 1008 C=0.4603 G=0.5397
1000Genomes Europe Sub 1006 C=0.4801 G=0.5199
1000Genomes South Asian Sub 978 C=0.349 G=0.651
1000Genomes American Sub 694 C=0.402 G=0.598
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.4335 G=0.5665
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.4593 G=0.5407
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.4792 G=0.5208
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.4724 G=0.5276
Korean Genome Project KOREAN Study-wide 1832 C=0.5000 G=0.5000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.460 G=0.540
Northern Sweden ACPOP Study-wide 600 C=0.572 G=0.428
SGDP_PRJ Global Study-wide 422 C=0.282 G=0.718
HapMap Global Study-wide 278 C=0.511 G=0.489
HapMap African Sub 98 C=0.60 G=0.40
HapMap American Sub 98 C=0.47 G=0.53
HapMap Asian Sub 82 C=0.45 G=0.55
Qatari Global Study-wide 216 C=0.528 G=0.472
A Vietnamese Genetic Variation Database Global Study-wide 212 C=0.491 G=0.509
Siberian Global Study-wide 46 C=0.33 G=0.67
The Danish reference pan genome Danish Study-wide 40 C=0.40 G=0.60
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 3 NC_000003.12:g.2285880C>G
GRCh38.p14 chr 3 NC_000003.12:g.2285880C>T
GRCh37.p13 chr 3 NC_000003.11:g.2327564C>G
GRCh37.p13 chr 3 NC_000003.11:g.2327564C>T
CNTN4 RefSeqGene NG_012827.2:g.190318C>G
CNTN4 RefSeqGene NG_012827.2:g.190318C>T
Gene: CNTN4, contactin 4 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CNTN4 transcript variant 4 NM_001206955.2:c.-145+468…

NM_001206955.2:c.-145+46812C>G

N/A Intron Variant
CNTN4 transcript variant 6 NM_001350095.2:c.-144-532…

NM_001350095.2:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant 1 NM_175607.3:c.-144-53298C…

NM_175607.3:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant 5 NM_001206956.2:c. N/A Genic Upstream Transcript Variant
CNTN4 transcript variant 3 NM_175613.3:c. N/A Genic Upstream Transcript Variant
CNTN4 transcript variant X33 XM_006713004.5:c.-144-532…

XM_006713004.5:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X1 XM_011533425.4:c.-144-532…

XM_011533425.4:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X4 XM_011533427.3:c.-144-532…

XM_011533427.3:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X2 XM_017005782.2:c.-144-532…

XM_017005782.2:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X3 XM_017005783.2:c.-144-532…

XM_017005783.2:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X8 XM_017005784.3:c.-144-532…

XM_017005784.3:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X29 XM_017005785.2:c.-144-532…

XM_017005785.2:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X9 XM_047447517.1:c.-144-532…

XM_047447517.1:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X10 XM_047447518.1:c.-144-532…

XM_047447518.1:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X11 XM_047447519.1:c.-144-532…

XM_047447519.1:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X12 XM_047447520.1:c.-144-532…

XM_047447520.1:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X13 XM_047447521.1:c.-144-532…

XM_047447521.1:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X14 XM_047447522.1:c.-144-532…

XM_047447522.1:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X15 XM_047447523.1:c.-144-532…

XM_047447523.1:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X16 XM_047447524.1:c.-144-532…

XM_047447524.1:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X17 XM_047447525.1:c.-144-532…

XM_047447525.1:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X18 XM_047447526.1:c.-144-532…

XM_047447526.1:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X19 XM_047447527.1:c.-144-532…

XM_047447527.1:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X20 XM_047447528.1:c.-144-532…

XM_047447528.1:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X21 XM_047447529.1:c.-144-532…

XM_047447529.1:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X22 XM_047447530.1:c.-144-532…

XM_047447530.1:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X23 XM_047447531.1:c.-144-532…

XM_047447531.1:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X24 XM_047447532.1:c.-144-532…

XM_047447532.1:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X25 XM_047447533.1:c.-144-532…

XM_047447533.1:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X28 XM_047447535.1:c.-144-532…

XM_047447535.1:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X30 XM_047447536.1:c.-144-532…

XM_047447536.1:c.-144-53298C>G

N/A Intron Variant
CNTN4 transcript variant X5 XM_011533428.3:c. N/A Genic Upstream Transcript Variant
CNTN4 transcript variant X27 XM_011533429.3:c. N/A Genic Upstream Transcript Variant
CNTN4 transcript variant X6 XM_011533430.3:c. N/A Genic Upstream Transcript Variant
CNTN4 transcript variant X34 XM_011533431.3:c. N/A Genic Upstream Transcript Variant
CNTN4 transcript variant X31 XM_017005786.2:c. N/A Genic Upstream Transcript Variant
CNTN4 transcript variant X32 XM_017005787.2:c. N/A Genic Upstream Transcript Variant
CNTN4 transcript variant X7 XM_047447516.1:c. N/A Genic Upstream Transcript Variant
CNTN4 transcript variant X26 XM_047447534.1:c. N/A Genic Upstream Transcript Variant
CNTN4 transcript variant X35 XM_047447537.1:c. N/A Genic Upstream 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 C= G T
GRCh38.p14 chr 3 NC_000003.12:g.2285880= NC_000003.12:g.2285880C>G NC_000003.12:g.2285880C>T
GRCh37.p13 chr 3 NC_000003.11:g.2327564= NC_000003.11:g.2327564C>G NC_000003.11:g.2327564C>T
CNTN4 RefSeqGene NG_012827.2:g.190318= NG_012827.2:g.190318C>G NG_012827.2:g.190318C>T
CNTN4 transcript variant 4 NM_001206955.1:c.-145+46812= NM_001206955.1:c.-145+46812C>G NM_001206955.1:c.-145+46812C>T
CNTN4 transcript variant 4 NM_001206955.2:c.-145+46812= NM_001206955.2:c.-145+46812C>G NM_001206955.2:c.-145+46812C>T
CNTN4 transcript variant 6 NM_001350095.2:c.-144-53298= NM_001350095.2:c.-144-53298C>G NM_001350095.2:c.-144-53298C>T
CNTN4 transcript variant 1 NM_175607.2:c.-144-53298= NM_175607.2:c.-144-53298C>G NM_175607.2:c.-144-53298C>T
CNTN4 transcript variant 1 NM_175607.3:c.-144-53298= NM_175607.3:c.-144-53298C>G NM_175607.3:c.-144-53298C>T
CNTN4 transcript variant X1 XM_005264903.1:c.-144-53298= XM_005264903.1:c.-144-53298C>G XM_005264903.1:c.-144-53298C>T
CNTN4 transcript variant X2 XM_005264904.1:c.-144-53298= XM_005264904.1:c.-144-53298C>G XM_005264904.1:c.-144-53298C>T
CNTN4 transcript variant X4 XM_005264906.1:c.-144-53298= XM_005264906.1:c.-144-53298C>G XM_005264906.1:c.-144-53298C>T
CNTN4 transcript variant X33 XM_006713004.5:c.-144-53298= XM_006713004.5:c.-144-53298C>G XM_006713004.5:c.-144-53298C>T
CNTN4 transcript variant X1 XM_011533425.4:c.-144-53298= XM_011533425.4:c.-144-53298C>G XM_011533425.4:c.-144-53298C>T
CNTN4 transcript variant X4 XM_011533427.3:c.-144-53298= XM_011533427.3:c.-144-53298C>G XM_011533427.3:c.-144-53298C>T
CNTN4 transcript variant X2 XM_017005782.2:c.-144-53298= XM_017005782.2:c.-144-53298C>G XM_017005782.2:c.-144-53298C>T
CNTN4 transcript variant X3 XM_017005783.2:c.-144-53298= XM_017005783.2:c.-144-53298C>G XM_017005783.2:c.-144-53298C>T
CNTN4 transcript variant X8 XM_017005784.3:c.-144-53298= XM_017005784.3:c.-144-53298C>G XM_017005784.3:c.-144-53298C>T
CNTN4 transcript variant X29 XM_017005785.2:c.-144-53298= XM_017005785.2:c.-144-53298C>G XM_017005785.2:c.-144-53298C>T
CNTN4 transcript variant X9 XM_047447517.1:c.-144-53298= XM_047447517.1:c.-144-53298C>G XM_047447517.1:c.-144-53298C>T
CNTN4 transcript variant X10 XM_047447518.1:c.-144-53298= XM_047447518.1:c.-144-53298C>G XM_047447518.1:c.-144-53298C>T
CNTN4 transcript variant X11 XM_047447519.1:c.-144-53298= XM_047447519.1:c.-144-53298C>G XM_047447519.1:c.-144-53298C>T
CNTN4 transcript variant X12 XM_047447520.1:c.-144-53298= XM_047447520.1:c.-144-53298C>G XM_047447520.1:c.-144-53298C>T
CNTN4 transcript variant X13 XM_047447521.1:c.-144-53298= XM_047447521.1:c.-144-53298C>G XM_047447521.1:c.-144-53298C>T
CNTN4 transcript variant X14 XM_047447522.1:c.-144-53298= XM_047447522.1:c.-144-53298C>G XM_047447522.1:c.-144-53298C>T
CNTN4 transcript variant X15 XM_047447523.1:c.-144-53298= XM_047447523.1:c.-144-53298C>G XM_047447523.1:c.-144-53298C>T
CNTN4 transcript variant X16 XM_047447524.1:c.-144-53298= XM_047447524.1:c.-144-53298C>G XM_047447524.1:c.-144-53298C>T
CNTN4 transcript variant X17 XM_047447525.1:c.-144-53298= XM_047447525.1:c.-144-53298C>G XM_047447525.1:c.-144-53298C>T
CNTN4 transcript variant X18 XM_047447526.1:c.-144-53298= XM_047447526.1:c.-144-53298C>G XM_047447526.1:c.-144-53298C>T
CNTN4 transcript variant X19 XM_047447527.1:c.-144-53298= XM_047447527.1:c.-144-53298C>G XM_047447527.1:c.-144-53298C>T
CNTN4 transcript variant X20 XM_047447528.1:c.-144-53298= XM_047447528.1:c.-144-53298C>G XM_047447528.1:c.-144-53298C>T
CNTN4 transcript variant X21 XM_047447529.1:c.-144-53298= XM_047447529.1:c.-144-53298C>G XM_047447529.1:c.-144-53298C>T
CNTN4 transcript variant X22 XM_047447530.1:c.-144-53298= XM_047447530.1:c.-144-53298C>G XM_047447530.1:c.-144-53298C>T
CNTN4 transcript variant X23 XM_047447531.1:c.-144-53298= XM_047447531.1:c.-144-53298C>G XM_047447531.1:c.-144-53298C>T
CNTN4 transcript variant X24 XM_047447532.1:c.-144-53298= XM_047447532.1:c.-144-53298C>G XM_047447532.1:c.-144-53298C>T
CNTN4 transcript variant X25 XM_047447533.1:c.-144-53298= XM_047447533.1:c.-144-53298C>G XM_047447533.1:c.-144-53298C>T
CNTN4 transcript variant X28 XM_047447535.1:c.-144-53298= XM_047447535.1:c.-144-53298C>G XM_047447535.1:c.-144-53298C>T
CNTN4 transcript variant X30 XM_047447536.1:c.-144-53298= XM_047447536.1:c.-144-53298C>G XM_047447536.1:c.-144-53298C>T
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#.

71 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 SSAHASNP ss22016416 Apr 05, 2004 (121)
2 ABI ss41997832 Mar 13, 2006 (126)
3 HGSV ss78015492 Dec 07, 2007 (129)
4 BCMHGSC_JDW ss91967731 Mar 24, 2008 (129)
5 HUMANGENOME_JCVI ss99069608 Feb 06, 2009 (130)
6 BGI ss103885936 Dec 01, 2009 (131)
7 1000GENOMES ss111117475 Jan 25, 2009 (130)
8 ILLUMINA-UK ss116942848 Feb 14, 2009 (130)
9 ENSEMBL ss135366584 Dec 01, 2009 (131)
10 ENSEMBL ss138676489 Dec 01, 2009 (131)
11 GMI ss155000580 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss163009079 Jul 04, 2010 (132)
13 BCM-HGSC-SUB ss206158938 Jul 04, 2010 (132)
14 1000GENOMES ss211123336 Jul 14, 2010 (132)
15 1000GENOMES ss219935011 Jul 14, 2010 (132)
16 1000GENOMES ss231674526 Jul 14, 2010 (132)
17 1000GENOMES ss239114826 Jul 15, 2010 (132)
18 BL ss252881254 May 09, 2011 (134)
19 GMI ss276981172 May 04, 2012 (137)
20 GMI ss284578669 Apr 25, 2013 (138)
21 PJP ss292780813 May 09, 2011 (134)
22 SSMP ss650034514 Apr 25, 2013 (138)
23 EVA-GONL ss978188275 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1070109551 Aug 21, 2014 (142)
25 1000GENOMES ss1302495062 Aug 21, 2014 (142)
26 DDI ss1429303512 Apr 01, 2015 (144)
27 EVA_GENOME_DK ss1579810253 Apr 01, 2015 (144)
28 EVA_DECODE ss1587646984 Apr 01, 2015 (144)
29 EVA_UK10K_ALSPAC ss1606249410 Apr 01, 2015 (144)
30 EVA_UK10K_TWINSUK ss1649243443 Apr 01, 2015 (144)
31 HAMMER_LAB ss1798730734 Sep 08, 2015 (146)
32 WEILL_CORNELL_DGM ss1921440543 Feb 12, 2016 (147)
33 GENOMED ss1969302088 Jul 19, 2016 (147)
34 JJLAB ss2021269653 Sep 14, 2016 (149)
35 USC_VALOUEV ss2149337643 Dec 20, 2016 (150)
36 HUMAN_LONGEVITY ss2248465588 Dec 20, 2016 (150)
37 SYSTEMSBIOZJU ss2625134198 Nov 08, 2017 (151)
38 GRF ss2704692871 Nov 08, 2017 (151)
39 GNOMAD ss2788702152 Nov 08, 2017 (151)
40 SWEGEN ss2991707387 Nov 08, 2017 (151)
41 BIOINF_KMB_FNS_UNIBA ss3024396223 Nov 08, 2017 (151)
42 CSHL ss3344845615 Nov 08, 2017 (151)
43 URBANLAB ss3647322544 Oct 11, 2018 (152)
44 EGCUT_WGS ss3659603109 Jul 13, 2019 (153)
45 EVA_DECODE ss3708487462 Jul 13, 2019 (153)
46 ACPOP ss3729563568 Jul 13, 2019 (153)
47 EVA ss3759562957 Jul 13, 2019 (153)
48 PACBIO ss3784212686 Jul 13, 2019 (153)
49 PACBIO ss3789743936 Jul 13, 2019 (153)
50 PACBIO ss3794617633 Jul 13, 2019 (153)
51 KHV_HUMAN_GENOMES ss3802713941 Jul 13, 2019 (153)
52 EVA ss3827619610 Apr 25, 2020 (154)
53 EVA ss3837230937 Apr 25, 2020 (154)
54 EVA ss3842654305 Apr 25, 2020 (154)
55 SGDP_PRJ ss3855060334 Apr 25, 2020 (154)
56 KRGDB ss3900825263 Apr 25, 2020 (154)
57 KOGIC ss3950519456 Apr 25, 2020 (154)
58 TOPMED ss4551726823 Apr 26, 2021 (155)
59 TOMMO_GENOMICS ss5157466551 Apr 26, 2021 (155)
60 1000G_HIGH_COVERAGE ss5252782388 Oct 17, 2022 (156)
61 EVA ss5337402491 Oct 17, 2022 (156)
62 HUGCELL_USP ss5452313099 Oct 17, 2022 (156)
63 EVA ss5506861839 Oct 17, 2022 (156)
64 1000G_HIGH_COVERAGE ss5530485134 Oct 17, 2022 (156)
65 SANFORD_IMAGENETICS ss5631386127 Oct 17, 2022 (156)
66 TOMMO_GENOMICS ss5688642306 Oct 17, 2022 (156)
67 YY_MCH ss5803412037 Oct 17, 2022 (156)
68 EVA ss5825240207 Oct 17, 2022 (156)
69 EVA ss5853454765 Oct 17, 2022 (156)
70 EVA ss5867324178 Oct 17, 2022 (156)
71 EVA ss5959640066 Oct 17, 2022 (156)
72 1000Genomes NC_000003.11 - 2327564 Oct 11, 2018 (152)
73 1000Genomes_30x NC_000003.12 - 2285880 Oct 17, 2022 (156)
74 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 2327564 Oct 11, 2018 (152)
75 Genetic variation in the Estonian population NC_000003.11 - 2327564 Oct 11, 2018 (152)
76 The Danish reference pan genome NC_000003.11 - 2327564 Apr 25, 2020 (154)
77 gnomAD - Genomes NC_000003.12 - 2285880 Apr 26, 2021 (155)
78 Genome of the Netherlands Release 5 NC_000003.11 - 2327564 Apr 25, 2020 (154)
79 HapMap NC_000003.12 - 2285880 Apr 25, 2020 (154)
80 KOREAN population from KRGDB NC_000003.11 - 2327564 Apr 25, 2020 (154)
81 Korean Genome Project NC_000003.12 - 2285880 Apr 25, 2020 (154)
82 Northern Sweden NC_000003.11 - 2327564 Jul 13, 2019 (153)
83 Qatari NC_000003.11 - 2327564 Apr 25, 2020 (154)
84 SGDP_PRJ NC_000003.11 - 2327564 Apr 25, 2020 (154)
85 Siberian NC_000003.11 - 2327564 Apr 25, 2020 (154)
86 8.3KJPN NC_000003.11 - 2327564 Apr 26, 2021 (155)
87 14KJPN NC_000003.12 - 2285880 Oct 17, 2022 (156)
88 TopMed NC_000003.12 - 2285880 Apr 26, 2021 (155)
89 UK 10K study - Twins NC_000003.11 - 2327564 Oct 11, 2018 (152)
90 A Vietnamese Genetic Variation Database NC_000003.11 - 2327564 Jul 13, 2019 (153)
91 ALFA NC_000003.12 - 2285880 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78015492 NC_000003.9:2302563:C:G NC_000003.12:2285879:C:G (self)
ss91967731, ss111117475, ss116942848, ss163009079, ss206158938, ss211123336, ss252881254, ss276981172, ss284578669, ss292780813, ss1587646984 NC_000003.10:2302563:C:G NC_000003.12:2285879:C:G (self)
13630273, 7552183, 5341357, 5975192, 3312999, 8002657, 2848433, 3482473, 7077314, 1853997, 15435858, 7552183, 1642463, ss219935011, ss231674526, ss239114826, ss650034514, ss978188275, ss1070109551, ss1302495062, ss1429303512, ss1579810253, ss1606249410, ss1649243443, ss1798730734, ss1921440543, ss1969302088, ss2021269653, ss2149337643, ss2625134198, ss2704692871, ss2788702152, ss2991707387, ss3344845615, ss3659603109, ss3729563568, ss3759562957, ss3784212686, ss3789743936, ss3794617633, ss3827619610, ss3837230937, ss3855060334, ss3900825263, ss5157466551, ss5337402491, ss5506861839, ss5631386127, ss5825240207, ss5959640066 NC_000003.11:2327563:C:G NC_000003.12:2285879:C:G (self)
18011069, 96939478, 2286161, 6897457, 22479410, 389104378, 12644920606, ss2248465588, ss3024396223, ss3647322544, ss3708487462, ss3802713941, ss3842654305, ss3950519456, ss4551726823, ss5252782388, ss5452313099, ss5530485134, ss5688642306, ss5803412037, ss5853454765, ss5867324178 NC_000003.12:2285879:C:G NC_000003.12:2285879:C:G (self)
ss22016416 NT_022517.16:2267563:C:G NC_000003.12:2285879:C:G (self)
ss41997832, ss99069608, ss103885936, ss135366584, ss138676489, ss155000580 NT_022517.18:2267563:C:G NC_000003.12:2285879:C:G (self)
12644920606 NC_000003.12:2285879:C:T NC_000003.12:2285879:C:T (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 rs13096302

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