Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs116605307

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:1771344 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.002452 (649/264690, TOPMED)
A=0.000748 (188/251462, GnomAD_exome)
A=0.000331 (66/199524, ALFA) (+ 6 more)
A=0.002360 (331/140248, GnomAD)
A=0.000914 (111/121396, ExAC)
A=0.00357 (281/78698, PAGE_STUDY)
A=0.00284 (37/13006, GO-ESP)
A=0.0037 (24/6404, 1000G_30x)
A=0.0032 (16/5008, 1000G)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CLN8 : Missense 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 215936 G=0.999467 A=0.000533
European Sub 180024 G=0.999900 A=0.000100
African Sub 9816 G=0.9911 A=0.0089
African Others Sub 360 G=0.989 A=0.011
African American Sub 9456 G=0.9912 A=0.0088
Asian Sub 6354 G=0.9998 A=0.0002
East Asian Sub 4504 G=0.9998 A=0.0002
Other Asian Sub 1850 G=1.0000 A=0.0000
Latin American 1 Sub 804 G=0.998 A=0.002
Latin American 2 Sub 974 G=1.000 A=0.000
South Asian Sub 280 G=1.000 A=0.000
Other Sub 17684 G=0.99960 A=0.00040


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 G=0.997548 A=0.002452
gnomAD - Exomes Global Study-wide 251462 G=0.999252 A=0.000748
gnomAD - Exomes European Sub 135388 G=0.999926 A=0.000074
gnomAD - Exomes Asian Sub 49010 G=0.99969 A=0.00031
gnomAD - Exomes American Sub 34592 G=0.99951 A=0.00049
gnomAD - Exomes African Sub 16256 G=0.99108 A=0.00892
gnomAD - Exomes Ashkenazi Jewish Sub 10080 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6136 G=0.9998 A=0.0002
Allele Frequency Aggregator Total Global 199524 G=0.999669 A=0.000331
Allele Frequency Aggregator European Sub 169884 G=0.999912 A=0.000088
Allele Frequency Aggregator Other Sub 16250 G=0.99969 A=0.00031
Allele Frequency Aggregator Asian Sub 6354 G=0.9998 A=0.0002
Allele Frequency Aggregator African Sub 4978 G=0.9914 A=0.0086
Allele Frequency Aggregator Latin American 2 Sub 974 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 804 G=0.998 A=0.002
Allele Frequency Aggregator South Asian Sub 280 G=1.000 A=0.000
gnomAD - Genomes Global Study-wide 140248 G=0.997640 A=0.002360
gnomAD - Genomes European Sub 75948 G=0.99992 A=0.00008
gnomAD - Genomes African Sub 42036 G=0.99263 A=0.00737
gnomAD - Genomes American Sub 13654 G=0.99971 A=0.00029
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 G=0.9981 A=0.0019
gnomAD - Genomes Other Sub 2154 G=0.9977 A=0.0023
ExAC Global Study-wide 121396 G=0.999086 A=0.000914
ExAC Europe Sub 73344 G=0.99992 A=0.00008
ExAC Asian Sub 25164 G=0.99980 A=0.00020
ExAC American Sub 11578 G=0.99940 A=0.00060
ExAC African Sub 10404 G=0.99106 A=0.00894
ExAC Other Sub 906 G=1.000 A=0.000
The PAGE Study Global Study-wide 78698 G=0.99643 A=0.00357
The PAGE Study AfricanAmerican Sub 32512 G=0.99262 A=0.00738
The PAGE Study Mexican Sub 10810 G=0.99981 A=0.00019
The PAGE Study Asian Sub 8318 G=0.9995 A=0.0005
The PAGE Study PuertoRican Sub 7918 G=0.9995 A=0.0005
The PAGE Study NativeHawaiian Sub 4534 G=0.9996 A=0.0004
The PAGE Study Cuban Sub 4230 G=0.9981 A=0.0019
The PAGE Study Dominican Sub 3828 G=0.9969 A=0.0031
The PAGE Study CentralAmerican Sub 2450 G=0.9992 A=0.0008
The PAGE Study SouthAmerican Sub 1982 G=0.9980 A=0.0020
The PAGE Study NativeAmerican Sub 1260 G=0.9976 A=0.0024
The PAGE Study SouthAsian Sub 856 G=1.000 A=0.000
GO Exome Sequencing Project Global Study-wide 13006 G=0.99716 A=0.00284
GO Exome Sequencing Project European American Sub 8600 G=0.9998 A=0.0002
GO Exome Sequencing Project African American Sub 4406 G=0.9921 A=0.0079
1000Genomes_30x Global Study-wide 6404 G=0.9963 A=0.0037
1000Genomes_30x African Sub 1786 G=0.9882 A=0.0118
1000Genomes_30x Europe Sub 1266 G=0.9984 A=0.0016
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=0.999 A=0.001
1000Genomes Global Study-wide 5008 G=0.9968 A=0.0032
1000Genomes African Sub 1322 G=0.9894 A=0.0106
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9990 A=0.0010
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.999 A=0.001
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 8 NC_000008.11:g.1771344G>A
GRCh38.p14 chr 8 NC_000008.11:g.1771344G>T
GRCh37.p13 chr 8 NC_000008.10:g.1719510G>A
GRCh37.p13 chr 8 NC_000008.10:g.1719510G>T
CLN8 RefSeqGene (LRG_691) NG_008656.2:g.20567G>A
CLN8 RefSeqGene (LRG_691) NG_008656.2:g.20567G>T
GRCh38.p14 chr 8 alt locus HSCHR8_7_CTG1 NT_187680.1:g.184002G>A
GRCh38.p14 chr 8 alt locus HSCHR8_7_CTG1 NT_187680.1:g.184002G>T
Gene: CLN8, CLN8 transmembrane ER and ERGIC protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CLN8 transcript NM_018941.4:c.290G>A R [CGT] > H [CAT] Coding Sequence Variant
protein CLN8 NP_061764.2:p.Arg97His R (Arg) > H (His) Missense Variant
CLN8 transcript NM_018941.4:c.290G>T R [CGT] > L [CTT] Coding Sequence Variant
protein CLN8 NP_061764.2:p.Arg97Leu R (Arg) > L (Leu) Missense Variant
CLN8 transcript variant X1 XM_005266021.5:c.290G>A R [CGT] > H [CAT] Coding Sequence Variant
protein CLN8 isoform X1 XP_005266078.1:p.Arg97His R (Arg) > H (His) Missense Variant
CLN8 transcript variant X1 XM_005266021.5:c.290G>T R [CGT] > L [CTT] Coding Sequence Variant
protein CLN8 isoform X1 XP_005266078.1:p.Arg97Leu R (Arg) > L (Leu) Missense Variant
CLN8 transcript variant X2 XM_005266022.2:c.290G>A R [CGT] > H [CAT] Coding Sequence Variant
protein CLN8 isoform X1 XP_005266079.1:p.Arg97His R (Arg) > H (His) Missense Variant
CLN8 transcript variant X2 XM_005266022.2:c.290G>T R [CGT] > L [CTT] Coding Sequence Variant
protein CLN8 isoform X1 XP_005266079.1:p.Arg97Leu R (Arg) > L (Leu) Missense Variant
CLN8 transcript variant X3 XM_011534745.2:c.290G>A R [CGT] > H [CAT] Coding Sequence Variant
protein CLN8 isoform X1 XP_011533047.1:p.Arg97His R (Arg) > H (His) Missense Variant
CLN8 transcript variant X3 XM_011534745.2:c.290G>T R [CGT] > L [CTT] Coding Sequence Variant
protein CLN8 isoform X1 XP_011533047.1:p.Arg97Leu R (Arg) > L (Leu) Missense Variant
CLN8 transcript variant X4 XM_011534746.3:c.290G>A R [CGT] > H [CAT] Coding Sequence Variant
protein CLN8 isoform X1 XP_011533048.1:p.Arg97His R (Arg) > H (His) Missense Variant
CLN8 transcript variant X4 XM_011534746.3:c.290G>T R [CGT] > L [CTT] Coding Sequence Variant
protein CLN8 isoform X1 XP_011533048.1:p.Arg97Leu R (Arg) > L (Leu) Missense Variant
CLN8 transcript variant X5 XM_005266023.2:c.290G>A R [CGT] > H [CAT] Coding Sequence Variant
protein CLN8 isoform X1 XP_005266080.1:p.Arg97His R (Arg) > H (His) Missense Variant
CLN8 transcript variant X5 XM_005266023.2:c.290G>T R [CGT] > L [CTT] Coding Sequence Variant
protein CLN8 isoform X1 XP_005266080.1:p.Arg97Leu R (Arg) > L (Leu) Missense Variant
CLN8 transcript variant X6 XM_047421512.1:c.290G>A R [CGT] > H [CAT] Coding Sequence Variant
protein CLN8 isoform X1 XP_047277468.1:p.Arg97His R (Arg) > H (His) Missense Variant
CLN8 transcript variant X6 XM_047421512.1:c.290G>T R [CGT] > L [CTT] Coding Sequence Variant
protein CLN8 isoform X1 XP_047277468.1:p.Arg97Leu R (Arg) > L (Leu) Missense Variant
CLN8 transcript variant X7 XM_011534747.3:c.290G>A R [CGT] > H [CAT] Coding Sequence Variant
protein CLN8 isoform X2 XP_011533049.1:p.Arg97His R (Arg) > H (His) Missense Variant
CLN8 transcript variant X7 XM_011534747.3:c.290G>T R [CGT] > L [CTT] Coding Sequence Variant
protein CLN8 isoform X2 XP_011533049.1:p.Arg97Leu R (Arg) > L (Leu) Missense Variant
CLN8 transcript variant X8 XM_047421513.1:c.290G>A R [CGT] > H [CAT] Coding Sequence Variant
protein CLN8 isoform X2 XP_047277469.1:p.Arg97His R (Arg) > H (His) Missense Variant
CLN8 transcript variant X8 XM_047421513.1:c.290G>T R [CGT] > L [CTT] Coding Sequence Variant
protein CLN8 isoform X2 XP_047277469.1:p.Arg97Leu R (Arg) > L (Leu) 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: A (allele ID: 140510 )
ClinVar Accession Disease Names Clinical Significance
RCV000175909.4 not specified Benign
RCV000711264.4 not provided Benign
RCV000720294.1 Seizure Benign
RCV001079899.4 Neuronal ceroid lipofuscinosis Likely-Benign
Allele: T (allele ID: 834529 )
ClinVar Accession Disease Names Clinical Significance
RCV001056654.2 Neuronal ceroid lipofuscinosis Uncertain-Significance
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A T
GRCh38.p14 chr 8 NC_000008.11:g.1771344= NC_000008.11:g.1771344G>A NC_000008.11:g.1771344G>T
GRCh37.p13 chr 8 NC_000008.10:g.1719510= NC_000008.10:g.1719510G>A NC_000008.10:g.1719510G>T
CLN8 RefSeqGene (LRG_691) NG_008656.2:g.20567= NG_008656.2:g.20567G>A NG_008656.2:g.20567G>T
CLN8 transcript NM_018941.4:c.290= NM_018941.4:c.290G>A NM_018941.4:c.290G>T
CLN8 transcript NM_018941.3:c.290= NM_018941.3:c.290G>A NM_018941.3:c.290G>T
GRCh38.p14 chr 8 alt locus HSCHR8_7_CTG1 NT_187680.1:g.184002= NT_187680.1:g.184002G>A NT_187680.1:g.184002G>T
CLN8 transcript variant X1 XM_005266021.5:c.290= XM_005266021.5:c.290G>A XM_005266021.5:c.290G>T
CLN8 transcript variant X1 XM_005266021.4:c.290= XM_005266021.4:c.290G>A XM_005266021.4:c.290G>T
CLN8 transcript variant X1 XM_005266021.3:c.290= XM_005266021.3:c.290G>A XM_005266021.3:c.290G>T
CLN8 transcript variant X1 XM_005266021.2:c.290= XM_005266021.2:c.290G>A XM_005266021.2:c.290G>T
CLN8 transcript variant X1 XM_005266021.1:c.290= XM_005266021.1:c.290G>A XM_005266021.1:c.290G>T
CLN8 transcript variant X4 XM_011534746.3:c.290= XM_011534746.3:c.290G>A XM_011534746.3:c.290G>T
CLN8 transcript variant X4 XM_011534746.2:c.290= XM_011534746.2:c.290G>A XM_011534746.2:c.290G>T
CLN8 transcript variant X4 XM_011534746.1:c.290= XM_011534746.1:c.290G>A XM_011534746.1:c.290G>T
CLN8 transcript variant X7 XM_011534747.3:c.290= XM_011534747.3:c.290G>A XM_011534747.3:c.290G>T
CLN8 transcript variant X6 XM_011534747.2:c.290= XM_011534747.2:c.290G>A XM_011534747.2:c.290G>T
CLN8 transcript variant X6 XM_011534747.1:c.290= XM_011534747.1:c.290G>A XM_011534747.1:c.290G>T
CLN8 transcript variant X2 XM_005266022.2:c.290= XM_005266022.2:c.290G>A XM_005266022.2:c.290G>T
CLN8 transcript variant X3 XM_005266022.1:c.290= XM_005266022.1:c.290G>A XM_005266022.1:c.290G>T
CLN8 transcript variant X3 XM_011534745.2:c.290= XM_011534745.2:c.290G>A XM_011534745.2:c.290G>T
CLN8 transcript variant X2 XM_011534745.1:c.290= XM_011534745.1:c.290G>A XM_011534745.1:c.290G>T
CLN8 transcript variant X5 XM_005266023.2:c.290= XM_005266023.2:c.290G>A XM_005266023.2:c.290G>T
CLN8 transcript variant X5 XM_005266023.1:c.290= XM_005266023.1:c.290G>A XM_005266023.1:c.290G>T
CLN8 transcript variant X6 XM_047421512.1:c.290= XM_047421512.1:c.290G>A XM_047421512.1:c.290G>T
CLN8 transcript variant X8 XM_047421513.1:c.290= XM_047421513.1:c.290G>A XM_047421513.1:c.290G>T
protein CLN8 NP_061764.2:p.Arg97= NP_061764.2:p.Arg97His NP_061764.2:p.Arg97Leu
protein CLN8 isoform X1 XP_005266078.1:p.Arg97= XP_005266078.1:p.Arg97His XP_005266078.1:p.Arg97Leu
protein CLN8 isoform X1 XP_011533048.1:p.Arg97= XP_011533048.1:p.Arg97His XP_011533048.1:p.Arg97Leu
protein CLN8 isoform X2 XP_011533049.1:p.Arg97= XP_011533049.1:p.Arg97His XP_011533049.1:p.Arg97Leu
protein CLN8 isoform X1 XP_005266079.1:p.Arg97= XP_005266079.1:p.Arg97His XP_005266079.1:p.Arg97Leu
protein CLN8 isoform X1 XP_011533047.1:p.Arg97= XP_011533047.1:p.Arg97His XP_011533047.1:p.Arg97Leu
protein CLN8 isoform X1 XP_005266080.1:p.Arg97= XP_005266080.1:p.Arg97His XP_005266080.1:p.Arg97Leu
protein CLN8 isoform X1 XP_047277468.1:p.Arg97= XP_047277468.1:p.Arg97His XP_047277468.1:p.Arg97Leu
protein CLN8 isoform X2 XP_047277469.1:p.Arg97= XP_047277469.1:p.Arg97His XP_047277469.1:p.Arg97Leu
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#.

49 SubSNP, 9 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss223465938 Jul 14, 2010 (132)
2 NHLBI-ESP ss342251760 May 09, 2011 (134)
3 1000GENOMES ss490958713 May 04, 2012 (137)
4 EXOME_CHIP ss491409150 May 04, 2012 (137)
5 ILLUMINA ss534502421 Sep 08, 2015 (146)
6 ILLUMINA ss780866733 Sep 08, 2015 (146)
7 ILLUMINA ss783551565 Sep 08, 2015 (146)
8 1000GENOMES ss1328093324 Aug 21, 2014 (142)
9 CLINVAR ss1457617046 Nov 23, 2014 (136)
10 EVA_EXAC ss1689058215 Apr 01, 2015 (144)
11 ILLUMINA ss1752721229 Sep 08, 2015 (146)
12 ILLUMINA ss1917824960 Feb 12, 2016 (147)
13 ILLUMINA ss1946227029 Feb 12, 2016 (147)
14 ILLUMINA ss1959075794 Feb 12, 2016 (147)
15 HUMAN_LONGEVITY ss2299715949 Dec 20, 2016 (150)
16 GNOMAD ss2736942518 Nov 08, 2017 (151)
17 GNOMAD ss2747979974 Nov 08, 2017 (151)
18 GNOMAD ss2861830218 Nov 08, 2017 (151)
19 AFFY ss2985428142 Nov 08, 2017 (151)
20 ILLUMINA ss3022806116 Nov 08, 2017 (151)
21 ILLUMINA ss3629968006 Oct 12, 2018 (152)
22 ILLUMINA ss3629968007 Oct 12, 2018 (152)
23 ILLUMINA ss3635152574 Oct 12, 2018 (152)
24 ILLUMINA ss3640859864 Oct 12, 2018 (152)
25 ILLUMINA ss3644960194 Oct 12, 2018 (152)
26 ILLUMINA ss3653342816 Oct 12, 2018 (152)
27 ILLUMINA ss3654189751 Oct 12, 2018 (152)
28 EVA_DECODE ss3721168889 Jul 13, 2019 (153)
29 ILLUMINA ss3726503559 Jul 13, 2019 (153)
30 ILLUMINA ss3744576184 Jul 13, 2019 (153)
31 ILLUMINA ss3745452477 Jul 13, 2019 (153)
32 PAGE_CC ss3771415460 Jul 13, 2019 (153)
33 ILLUMINA ss3772945136 Jul 13, 2019 (153)
34 KHV_HUMAN_GENOMES ss3810624120 Jul 13, 2019 (153)
35 EVA ss3824341247 Apr 26, 2020 (154)
36 FSA-LAB ss3984389645 Apr 26, 2021 (155)
37 EVA ss3986411050 Apr 26, 2021 (155)
38 TOPMED ss4771705481 Apr 26, 2021 (155)
39 EVA ss5237434135 Apr 26, 2021 (155)
40 1000G_HIGH_COVERAGE ss5275612856 Oct 16, 2022 (156)
41 TRAN_CS_UWATERLOO ss5314422068 Oct 16, 2022 (156)
42 EVA ss5378337791 Oct 16, 2022 (156)
43 HUGCELL_USP ss5472364439 Oct 16, 2022 (156)
44 1000G_HIGH_COVERAGE ss5565165950 Oct 16, 2022 (156)
45 SANFORD_IMAGENETICS ss5644488669 Oct 16, 2022 (156)
46 EVA ss5848163048 Oct 16, 2022 (156)
47 EVA ss5887237906 Oct 16, 2022 (156)
48 EVA ss5973682048 Oct 16, 2022 (156)
49 EVA ss5979849876 Oct 16, 2022 (156)
50 1000Genomes NC_000008.10 - 1719510 Oct 12, 2018 (152)
51 1000Genomes_30x NC_000008.11 - 1771344 Oct 16, 2022 (156)
52 ExAC NC_000008.10 - 1719510 Oct 12, 2018 (152)
53 gnomAD - Genomes NC_000008.11 - 1771344 Apr 26, 2021 (155)
54 gnomAD - Exomes NC_000008.10 - 1719510 Jul 13, 2019 (153)
55 GO Exome Sequencing Project NC_000008.10 - 1719510 Oct 12, 2018 (152)
56 The PAGE Study NC_000008.11 - 1771344 Jul 13, 2019 (153)
57 TopMed NC_000008.11 - 1771344 Apr 26, 2021 (155)
58 ALFA NC_000008.11 - 1771344 Apr 26, 2021 (155)
59 ClinVar RCV000175909.4 Oct 16, 2022 (156)
60 ClinVar RCV000711264.4 Oct 16, 2022 (156)
61 ClinVar RCV000720294.1 Jul 13, 2019 (153)
62 ClinVar RCV001056654.2 Oct 16, 2022 (156)
63 ClinVar RCV001079899.4 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)
rs587780900 Feb 02, 2015 (136)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
40170843, 9148731, 6105987, 799110, ss223465938, ss342251760, ss490958713, ss491409150, ss534502421, ss780866733, ss783551565, ss1328093324, ss1689058215, ss1752721229, ss1917824960, ss1946227029, ss1959075794, ss2736942518, ss2747979974, ss2861830218, ss2985428142, ss3022806116, ss3629968006, ss3629968007, ss3635152574, ss3640859864, ss3644960194, ss3653342816, ss3654189751, ss3744576184, ss3745452477, ss3772945136, ss3824341247, ss3984389645, ss3986411050, ss5237434135, ss5378337791, ss5644488669, ss5848163048, ss5973682048, ss5979849876 NC_000008.10:1719509:G:A NC_000008.11:1771343:G:A (self)
RCV000175909.4, RCV000711264.4, RCV000720294.1, RCV001079899.4, 52691885, 283519995, 636929, 609083041, 15566581698, ss1457617046, ss2299715949, ss3721168889, ss3726503559, ss3771415460, ss3810624120, ss4771705481, ss5275612856, ss5314422068, ss5472364439, ss5565165950, ss5887237906 NC_000008.11:1771343:G:A NC_000008.11:1771343:G:A (self)
RCV001056654.2 NC_000008.11:1771343:G:T NC_000008.11:1771343:G: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 rs116605307

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