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.

rs35467041

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:240827155 (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=0.009921 (2626/264690, TOPMED)
C=0.002414 (607/251478, GnomAD_exome)
C=0.008932 (1253/140282, GnomAD) (+ 12 more)
C=0.002908 (353/121386, ExAC)
C=0.00297 (134/45090, ALFA)
C=0.00004 (1/28256, 14KJPN)
C=0.00006 (1/16760, 8.3KJPN)
C=0.01030 (134/13006, GO-ESP)
C=0.0086 (55/6404, 1000G_30x)
C=0.0084 (42/5008, 1000G)
C=0.0005 (2/3854, ALSPAC)
C=0.0003 (1/3708, TWINSUK)
C=0.001 (1/998, GoNL)
C=0.009 (5/534, MGP)
T=0.4 (3/8, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
RGS7 : Synonymous Variant
LOC124904602 : 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 61452 T=0.99536 C=0.00464
European Sub 42874 T=0.99963 C=0.00037
African Sub 8422 T=0.9715 C=0.0285
African Others Sub 306 T=0.958 C=0.042
African American Sub 8116 T=0.9720 C=0.0280
Asian Sub 172 T=1.000 C=0.000
East Asian Sub 114 T=1.000 C=0.000
Other Asian Sub 58 T=1.00 C=0.00
Latin American 1 Sub 508 T=0.984 C=0.016
Latin American 2 Sub 634 T=0.997 C=0.003
South Asian Sub 98 T=1.00 C=0.00
Other Sub 8744 T=0.9978 C=0.0022


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=0.990079 C=0.009921
gnomAD - Exomes Global Study-wide 251478 T=0.997586 C=0.002414
gnomAD - Exomes European Sub 135414 T=0.999830 C=0.000170
gnomAD - Exomes Asian Sub 49006 T=0.99882 C=0.00118
gnomAD - Exomes American Sub 34588 T=0.99809 C=0.00191
gnomAD - Exomes African Sub 16254 T=0.97219 C=0.02781
gnomAD - Exomes Ashkenazi Jewish Sub 10080 T=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6136 T=0.9987 C=0.0013
gnomAD - Genomes Global Study-wide 140282 T=0.991068 C=0.008932
gnomAD - Genomes European Sub 75964 T=0.99966 C=0.00034
gnomAD - Genomes African Sub 42048 T=0.97294 C=0.02706
gnomAD - Genomes American Sub 13660 T=0.99502 C=0.00498
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3134 T=0.9997 C=0.0003
gnomAD - Genomes Other Sub 2154 T=0.9907 C=0.0093
ExAC Global Study-wide 121386 T=0.997092 C=0.002908
ExAC Europe Sub 73344 T=0.99984 C=0.00016
ExAC Asian Sub 25162 T=0.99885 C=0.00115
ExAC American Sub 11570 T=0.99836 C=0.00164
ExAC African Sub 10404 T=0.97203 C=0.02797
ExAC Other Sub 906 T=0.998 C=0.002
Allele Frequency Aggregator Total Global 45090 T=0.99703 C=0.00297
Allele Frequency Aggregator European Sub 32784 T=0.99966 C=0.00034
Allele Frequency Aggregator Other Sub 7310 T=0.9985 C=0.0015
Allele Frequency Aggregator African Sub 3584 T=0.9715 C=0.0285
Allele Frequency Aggregator Latin American 2 Sub 634 T=0.997 C=0.003
Allele Frequency Aggregator Latin American 1 Sub 508 T=0.984 C=0.016
Allele Frequency Aggregator Asian Sub 172 T=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 98 T=1.00 C=0.00
14KJPN JAPANESE Study-wide 28256 T=0.99996 C=0.00004
8.3KJPN JAPANESE Study-wide 16760 T=0.99994 C=0.00006
GO Exome Sequencing Project Global Study-wide 13006 T=0.98970 C=0.01030
GO Exome Sequencing Project European American Sub 8600 T=0.9999 C=0.0001
GO Exome Sequencing Project African American Sub 4406 T=0.9698 C=0.0302
1000Genomes_30x Global Study-wide 6404 T=0.9914 C=0.0086
1000Genomes_30x African Sub 1786 T=0.9709 C=0.0291
1000Genomes_30x Europe Sub 1266 T=0.9992 C=0.0008
1000Genomes_30x South Asian Sub 1202 T=0.9992 C=0.0008
1000Genomes_30x East Asian Sub 1170 T=1.0000 C=0.0000
1000Genomes_30x American Sub 980 T=0.999 C=0.001
1000Genomes Global Study-wide 5008 T=0.9916 C=0.0084
1000Genomes African Sub 1322 T=0.9705 C=0.0295
1000Genomes East Asian Sub 1008 T=1.0000 C=0.0000
1000Genomes Europe Sub 1006 T=0.9990 C=0.0010
1000Genomes South Asian Sub 978 T=0.999 C=0.001
1000Genomes American Sub 694 T=0.999 C=0.001
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9995 C=0.0005
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9997 C=0.0003
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.999 C=0.001
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.991 C=0.009
SGDP_PRJ Global Study-wide 8 T=0.4 C=0.6
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 1 NC_000001.11:g.240827155T>C
GRCh37.p13 chr 1 NC_000001.10:g.240990455T>C
Gene: RGS7, regulator of G protein signaling 7 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RGS7 transcript variant 15 NM_001374812.1:c.610-1074…

NM_001374812.1:c.610-10740A>G

 		N/A Intron Variant
RGS7 transcript variant 1 NM_002924.6:c.627A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform 1 NP_002915.3:p.Thr209= T (Thr) > T (Thr) Synonymous Variant
RGS7 transcript variant 2 NM_001282773.2:c.468A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform 2 NP_001269702.1:p.Thr156= T (Thr) > T (Thr) Synonymous Variant
RGS7 transcript variant 8 NM_001350116.1:c.549A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform 6 NP_001337045.1:p.Thr183= T (Thr) > T (Thr) Synonymous Variant
RGS7 transcript variant 3 NM_001282775.2:c.627A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform 3 NP_001269704.1:p.Thr209= T (Thr) > T (Thr) Synonymous Variant
RGS7 transcript variant 4 NM_001282778.2:c.627A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform 4 NP_001269707.1:p.Thr209= T (Thr) > T (Thr) Synonymous Variant
RGS7 transcript variant 9 NM_001364886.1:c.627A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform 7 NP_001351815.1:p.Thr209= T (Thr) > T (Thr) Synonymous Variant
RGS7 transcript variant 12 NM_001374808.1:c.549A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform 5 NP_001361737.1:p.Thr183= T (Thr) > T (Thr) Synonymous Variant
RGS7 transcript variant 18 NM_001374814.1:c.468A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform 15 NP_001361743.1:p.Thr156= T (Thr) > T (Thr) Synonymous Variant
RGS7 transcript variant 20 NM_001374816.1:c.627A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform 17 NP_001361745.1:p.Thr209= T (Thr) > T (Thr) Synonymous Variant
RGS7 transcript variant 10 NM_001374806.1:c.576A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform 8 NP_001361735.1:p.Thr192= T (Thr) > T (Thr) Synonymous Variant
RGS7 transcript variant 14 NM_001374810.1:c.348A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform 11 NP_001361739.1:p.Thr116= T (Thr) > T (Thr) Synonymous Variant
RGS7 transcript variant 16 NM_001374811.1:c.468A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform 13 NP_001361740.1:p.Thr156= T (Thr) > T (Thr) Synonymous Variant
RGS7 transcript variant 17 NM_001374813.1:c.114A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform 14 NP_001361742.1:p.Thr38= T (Thr) > T (Thr) Synonymous Variant
RGS7 transcript variant 11 NM_001374807.1:c.576A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform 9 NP_001361736.1:p.Thr192= T (Thr) > T (Thr) Synonymous Variant
RGS7 transcript variant 19 NM_001374815.1:c.627A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform 16 NP_001361744.1:p.Thr209= T (Thr) > T (Thr) Synonymous Variant
RGS7 transcript variant 13 NM_001374809.1:c.348A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform 10 NP_001361738.1:p.Thr116= T (Thr) > T (Thr) Synonymous Variant
RGS7 transcript variant 5 NM_001350113.2:c.549A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform 5 NP_001337042.1:p.Thr183= T (Thr) > T (Thr) Synonymous Variant
RGS7 transcript variant 6 NM_001350114.2:c.549A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform 5 NP_001337043.1:p.Thr183= T (Thr) > T (Thr) Synonymous Variant
RGS7 transcript variant 7 NM_001350115.2:c.549A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform 6 NP_001337044.1:p.Thr183= T (Thr) > T (Thr) Synonymous Variant
RGS7 transcript variant X1 XM_047426980.1:c.549A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform X1 XP_047282936.1:p.Thr183= T (Thr) > T (Thr) Synonymous Variant
RGS7 transcript variant X2 XM_017002009.2:c.549A>G T [ACA] > T [ACG] Coding Sequence Variant
regulator of G-protein signaling 7 isoform X2 XP_016857498.1:p.Thr183= T (Thr) > T (Thr) Synonymous Variant
Gene: LOC124904602, uncharacterized LOC124904602 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC124904602 transcript XR_007067053.1:n. N/A Intron 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: 707249 )
ClinVar Accession Disease Names Clinical Significance
RCV000970067.4 not provided Benign
Help

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

Placement T= C
GRCh38.p14 chr 1 NC_000001.11:g.240827155= NC_000001.11:g.240827155T>C
GRCh37.p13 chr 1 NC_000001.10:g.240990455= NC_000001.10:g.240990455T>C
RGS7 transcript variant 1 NM_002924.6:c.627= NM_002924.6:c.627A>G
RGS7 transcript variant 1 NM_002924.5:c.627= NM_002924.5:c.627A>G
RGS7 transcript NM_002924.4:c.627= NM_002924.4:c.627A>G
RGS7 transcript variant X2 XM_017002009.2:c.549= XM_017002009.2:c.549A>G
RGS7 transcript variant X10 XM_017002009.1:c.549= XM_017002009.1:c.549A>G
RGS7 transcript variant 5 NM_001350113.2:c.549= NM_001350113.2:c.549A>G
RGS7 transcript variant 5 NM_001350113.1:c.549= NM_001350113.1:c.549A>G
RGS7 transcript variant 6 NM_001350114.2:c.549= NM_001350114.2:c.549A>G
RGS7 transcript variant 6 NM_001350114.1:c.549= NM_001350114.1:c.549A>G
RGS7 transcript variant 3 NM_001282775.2:c.627= NM_001282775.2:c.627A>G
RGS7 transcript variant 3 NM_001282775.1:c.627= NM_001282775.1:c.627A>G
RGS7 transcript variant 7 NM_001350115.2:c.549= NM_001350115.2:c.549A>G
RGS7 transcript variant 7 NM_001350115.1:c.549= NM_001350115.1:c.549A>G
RGS7 transcript variant 4 NM_001282778.2:c.627= NM_001282778.2:c.627A>G
RGS7 transcript variant 4 NM_001282778.1:c.627= NM_001282778.1:c.627A>G
RGS7 transcript variant 2 NM_001282773.2:c.468= NM_001282773.2:c.468A>G
RGS7 transcript variant 2 NM_001282773.1:c.468= NM_001282773.1:c.468A>G
RGS7 transcript variant 12 NM_001374808.1:c.549= NM_001374808.1:c.549A>G
RGS7 transcript variant 14 NM_001374810.1:c.348= NM_001374810.1:c.348A>G
RGS7 transcript variant 10 NM_001374806.1:c.576= NM_001374806.1:c.576A>G
RGS7 transcript variant 13 NM_001374809.1:c.348= NM_001374809.1:c.348A>G
RGS7 transcript variant 18 NM_001374814.1:c.468= NM_001374814.1:c.468A>G
RGS7 transcript variant 19 NM_001374815.1:c.627= NM_001374815.1:c.627A>G
RGS7 transcript variant 20 NM_001374816.1:c.627= NM_001374816.1:c.627A>G
RGS7 transcript variant 16 NM_001374811.1:c.468= NM_001374811.1:c.468A>G
RGS7 transcript variant 17 NM_001374813.1:c.114= NM_001374813.1:c.114A>G
RGS7 transcript variant X1 XM_047426980.1:c.549= XM_047426980.1:c.549A>G
RGS7 transcript variant 11 NM_001374807.1:c.576= NM_001374807.1:c.576A>G
RGS7 transcript variant 9 NM_001364886.1:c.627= NM_001364886.1:c.627A>G
RGS7 transcript variant 8 NM_001350116.1:c.549= NM_001350116.1:c.549A>G
regulator of G-protein signaling 7 isoform 1 NP_002915.3:p.Thr209= NP_002915.3:p.Thr209=
regulator of G-protein signaling 7 isoform X2 XP_016857498.1:p.Thr183= XP_016857498.1:p.Thr183=
regulator of G-protein signaling 7 isoform 5 NP_001337042.1:p.Thr183= NP_001337042.1:p.Thr183=
regulator of G-protein signaling 7 isoform 5 NP_001337043.1:p.Thr183= NP_001337043.1:p.Thr183=
regulator of G-protein signaling 7 isoform 3 NP_001269704.1:p.Thr209= NP_001269704.1:p.Thr209=
regulator of G-protein signaling 7 isoform 6 NP_001337044.1:p.Thr183= NP_001337044.1:p.Thr183=
regulator of G-protein signaling 7 isoform 4 NP_001269707.1:p.Thr209= NP_001269707.1:p.Thr209=
regulator of G-protein signaling 7 isoform 2 NP_001269702.1:p.Thr156= NP_001269702.1:p.Thr156=
regulator of G-protein signaling 7 isoform 5 NP_001361737.1:p.Thr183= NP_001361737.1:p.Thr183=
regulator of G-protein signaling 7 isoform 11 NP_001361739.1:p.Thr116= NP_001361739.1:p.Thr116=
regulator of G-protein signaling 7 isoform 8 NP_001361735.1:p.Thr192= NP_001361735.1:p.Thr192=
regulator of G-protein signaling 7 isoform 10 NP_001361738.1:p.Thr116= NP_001361738.1:p.Thr116=
regulator of G-protein signaling 7 isoform 15 NP_001361743.1:p.Thr156= NP_001361743.1:p.Thr156=
regulator of G-protein signaling 7 isoform 16 NP_001361744.1:p.Thr209= NP_001361744.1:p.Thr209=
regulator of G-protein signaling 7 isoform 17 NP_001361745.1:p.Thr209= NP_001361745.1:p.Thr209=
regulator of G-protein signaling 7 isoform 13 NP_001361740.1:p.Thr156= NP_001361740.1:p.Thr156=
regulator of G-protein signaling 7 isoform 14 NP_001361742.1:p.Thr38= NP_001361742.1:p.Thr38=
regulator of G-protein signaling 7 isoform X1 XP_047282936.1:p.Thr183= XP_047282936.1:p.Thr183=
regulator of G-protein signaling 7 isoform 9 NP_001361736.1:p.Thr192= NP_001361736.1:p.Thr192=
regulator of G-protein signaling 7 isoform 7 NP_001351815.1:p.Thr209= NP_001351815.1:p.Thr209=
regulator of G-protein signaling 7 isoform 6 NP_001337045.1:p.Thr183= NP_001337045.1:p.Thr183=
RGS7 transcript variant 15 NM_001374812.1:c.610-10740= NM_001374812.1:c.610-10740A>G
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#.

39 SubSNP, 15 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 APPLERA_GI ss48414004 Mar 15, 2006 (126)
2 HGSV ss86029091 Dec 16, 2007 (130)
3 SEATTLESEQ ss159701014 Dec 01, 2009 (131)
4 1000GENOMES ss217408946 Jul 14, 2010 (132)
5 1000GENOMES ss217413826 Jul 14, 2010 (132)
6 1000GENOMES ss329329653 May 09, 2011 (134)
7 NHLBI-ESP ss342039133 May 09, 2011 (134)
8 1000GENOMES ss489799212 May 04, 2012 (137)
9 CLINSEQ_SNP ss491618610 May 04, 2012 (137)
10 ILLUMINA ss534934897 Sep 08, 2015 (146)
11 SSMP ss648826659 Apr 25, 2013 (138)
12 EVA-GONL ss976329730 Aug 21, 2014 (142)
13 1000GENOMES ss1295332099 Aug 21, 2014 (142)
14 EVA_UK10K_ALSPAC ss1602506301 Apr 01, 2015 (144)
15 EVA_UK10K_TWINSUK ss1645500334 Apr 01, 2015 (144)
16 EVA_EXAC ss1686137199 Apr 01, 2015 (144)
17 EVA_MGP ss1710949945 Apr 01, 2015 (144)
18 HUMAN_LONGEVITY ss2171490105 Dec 20, 2016 (150)
19 GNOMAD ss2732401923 Nov 08, 2017 (151)
20 GNOMAD ss2746600654 Nov 08, 2017 (151)
21 GNOMAD ss2768130107 Nov 08, 2017 (151)
22 ILLUMINA ss3626349895 Oct 11, 2018 (152)
23 EVA ss3747551818 Jul 12, 2019 (153)
24 KHV_HUMAN_GENOMES ss3800555271 Jul 12, 2019 (153)
25 EVA ss3823733299 Apr 25, 2020 (154)
26 EVA ss3825592233 Apr 25, 2020 (154)
27 SGDP_PRJ ss3851259156 Apr 25, 2020 (154)
28 EVA ss3986166225 Apr 25, 2021 (155)
29 TOPMED ss4489455943 Apr 25, 2021 (155)
30 TOMMO_GENOMICS ss5149212366 Apr 25, 2021 (155)
31 EVA ss5236880643 Apr 25, 2021 (155)
32 1000G_HIGH_COVERAGE ss5246395028 Oct 17, 2022 (156)
33 EVA ss5325879267 Oct 17, 2022 (156)
34 HUGCELL_USP ss5446775143 Oct 17, 2022 (156)
35 1000G_HIGH_COVERAGE ss5520790374 Oct 17, 2022 (156)
36 SANFORD_IMAGENETICS ss5627790726 Oct 17, 2022 (156)
37 TOMMO_GENOMICS ss5677198208 Oct 17, 2022 (156)
38 EVA ss5912662056 Oct 17, 2022 (156)
39 EVA ss5939641344 Oct 17, 2022 (156)
40 1000Genomes NC_000001.10 - 240990455 Oct 11, 2018 (152)
41 1000Genomes_30x NC_000001.11 - 240827155 Oct 17, 2022 (156)
42 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 240990455 Oct 11, 2018 (152)
43 ExAC NC_000001.10 - 240990455 Oct 11, 2018 (152)
44 gnomAD - Genomes NC_000001.11 - 240827155 Apr 25, 2021 (155)
45 gnomAD - Exomes NC_000001.10 - 240990455 Jul 12, 2019 (153)
46 GO Exome Sequencing Project NC_000001.10 - 240990455 Oct 11, 2018 (152)
47 Genome of the Netherlands Release 5 NC_000001.10 - 240990455 Apr 25, 2020 (154)
48 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 240990455 Apr 25, 2020 (154)
49 SGDP_PRJ NC_000001.10 - 240990455 Apr 25, 2020 (154)
50 8.3KJPN NC_000001.10 - 240990455 Apr 25, 2021 (155)
51 14KJPN NC_000001.11 - 240827155 Oct 17, 2022 (156)
52 TopMed NC_000001.11 - 240827155 Apr 25, 2021 (155)
53 UK 10K study - Twins NC_000001.10 - 240990455 Oct 11, 2018 (152)
54 ALFA NC_000001.11 - 240827155 Apr 25, 2021 (155)
55 ClinVar RCV000970067.4 Oct 17, 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)
rs61233813 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss86029091 NC_000001.8:237316495:T:C NC_000001.11:240827154:T:C (self)
ss217408946, ss217413826, ss491618610 NC_000001.9:239057077:T:C NC_000001.11:240827154:T:C (self)
6212152, 3442340, 5380110, 1440834, 191800, 1507835, 66697, 3276136, 7181673, 3442340, ss329329653, ss342039133, ss489799212, ss534934897, ss648826659, ss976329730, ss1295332099, ss1602506301, ss1645500334, ss1686137199, ss1710949945, ss2732401923, ss2746600654, ss2768130107, ss3626349895, ss3747551818, ss3823733299, ss3825592233, ss3851259156, ss3986166225, ss5149212366, ss5325879267, ss5627790726, ss5939641344 NC_000001.10:240990454:T:C NC_000001.11:240827154:T:C (self)
RCV000970067.4, 8316309, 44451224, 11035312, 53062278, 185558235, ss2171490105, ss3800555271, ss4489455943, ss5236880643, ss5246395028, ss5446775143, ss5520790374, ss5677198208, ss5912662056 NC_000001.11:240827154:T:C NC_000001.11:240827154:T:C (self)
ss48414004, ss159701014 NT_167186.1:34508233:T:C NC_000001.11:240827154: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.

No publications for rs35467041

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