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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.

rs35735053

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:165991411 (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=0.009536 (2524/264690, TOPMED)
G=0.001939 (486/250704, GnomAD_exome)
G=0.000834 (166/199072, ALFA) (+ 10 more)
G=0.008757 (1227/140110, GnomAD)
G=0.002372 (287/120976, ExAC)
G=0.01327 (1044/78694, PAGE_STUDY)
G=0.00930 (121/13006, GO-ESP)
G=0.0094 (60/6404, 1000G_30x)
G=0.0076 (38/5008, 1000G)
G=0.0012 (4/3234, PRJNA289433)
G=0.0005 (1/1832, Korea1K)
A=0.5 (1/2, SGDP_PRJ)
G=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SCN1A : Missense Variant
LOC102724058 : Intron Variant
Publications
3 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 215470 A=0.998468 G=0.001532
European Sub 184114 A=0.999978 G=0.000022
African Sub 9982 A=0.9703 G=0.0297
African Others Sub 370 A=0.951 G=0.049
African American Sub 9612 A=0.9711 G=0.0289
Asian Sub 3404 A=1.0000 G=0.0000
East Asian Sub 2720 A=1.0000 G=0.0000
Other Asian Sub 684 A=1.000 G=0.000
Latin American 1 Sub 814 A=0.996 G=0.004
Latin American 2 Sub 1042 A=1.0000 G=0.0000
South Asian Sub 296 A=1.000 G=0.000
Other Sub 15818 A=0.99829 G=0.00171


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 A=0.990464 G=0.009536
gnomAD - Exomes Global Study-wide 250704 A=0.998061 G=0.001939
gnomAD - Exomes European Sub 134820 A=1.000000 G=0.000000
gnomAD - Exomes Asian Sub 48982 A=1.00000 G=0.00000
gnomAD - Exomes American Sub 34492 A=0.99910 G=0.00090
gnomAD - Exomes African Sub 16234 A=0.97222 G=0.02778
gnomAD - Exomes Ashkenazi Jewish Sub 10062 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6114 A=0.9993 G=0.0007
Allele Frequency Aggregator Total Global 199072 A=0.999166 G=0.000834
Allele Frequency Aggregator European Sub 173982 A=0.999977 G=0.000023
Allele Frequency Aggregator Other Sub 14388 A=0.99861 G=0.00139
Allele Frequency Aggregator African Sub 5146 A=0.9730 G=0.0270
Allele Frequency Aggregator Asian Sub 3404 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 1042 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 1 Sub 814 A=0.996 G=0.004
Allele Frequency Aggregator South Asian Sub 296 A=1.000 G=0.000
gnomAD - Genomes Global Study-wide 140110 A=0.991243 G=0.008757
gnomAD - Genomes European Sub 75896 A=0.99996 G=0.00004
gnomAD - Genomes African Sub 42004 A=0.97172 G=0.02828
gnomAD - Genomes American Sub 13638 A=0.99802 G=0.00198
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3104 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2148 A=0.9958 G=0.0042
ExAC Global Study-wide 120976 A=0.997628 G=0.002372
ExAC Europe Sub 73126 A=1.00000 G=0.00000
ExAC Asian Sub 25128 A=1.00000 G=0.00000
ExAC American Sub 11454 A=0.99930 G=0.00070
ExAC African Sub 10362 A=0.97307 G=0.02693
ExAC Other Sub 906 A=1.000 G=0.000
The PAGE Study Global Study-wide 78694 A=0.98673 G=0.01327
The PAGE Study AfricanAmerican Sub 32514 A=0.97309 G=0.02691
The PAGE Study Mexican Sub 10808 A=0.99917 G=0.00083
The PAGE Study Asian Sub 8318 A=1.0000 G=0.0000
The PAGE Study PuertoRican Sub 7918 A=0.9925 G=0.0075
The PAGE Study NativeHawaiian Sub 4534 A=1.0000 G=0.0000
The PAGE Study Cuban Sub 4226 A=0.9965 G=0.0035
The PAGE Study Dominican Sub 3828 A=0.9838 G=0.0162
The PAGE Study CentralAmerican Sub 2450 A=0.9951 G=0.0049
The PAGE Study SouthAmerican Sub 1982 A=0.9975 G=0.0025
The PAGE Study NativeAmerican Sub 1260 A=0.9944 G=0.0056
The PAGE Study SouthAsian Sub 856 A=1.000 G=0.000
GO Exome Sequencing Project Global Study-wide 13006 A=0.99070 G=0.00930
GO Exome Sequencing Project European American Sub 8600 A=1.0000 G=0.0000
GO Exome Sequencing Project African American Sub 4406 A=0.9725 G=0.0275
1000Genomes_30x Global Study-wide 6404 A=0.9906 G=0.0094
1000Genomes_30x African Sub 1786 A=0.9698 G=0.0302
1000Genomes_30x Europe Sub 1266 A=1.0000 G=0.0000
1000Genomes_30x South Asian Sub 1202 A=1.0000 G=0.0000
1000Genomes_30x East Asian Sub 1170 A=1.0000 G=0.0000
1000Genomes_30x American Sub 980 A=0.994 G=0.006
1000Genomes Global Study-wide 5008 A=0.9924 G=0.0076
1000Genomes African Sub 1322 A=0.9743 G=0.0257
1000Genomes East Asian Sub 1008 A=1.0000 G=0.0000
1000Genomes Europe Sub 1006 A=1.0000 G=0.0000
1000Genomes South Asian Sub 978 A=1.000 G=0.000
1000Genomes American Sub 694 A=0.994 G=0.006
MxGDAR/Encodat-PGx Global Study-wide 3234 A=0.9988 G=0.0012
MxGDAR/Encodat-PGx MxGDAR Sub 3234 A=0.9988 G=0.0012
Korean Genome Project KOREAN Study-wide 1832 A=0.9995 G=0.0005
SGDP_PRJ Global Study-wide 2 A=0.5 G=0.5
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 2 NC_000002.12:g.165991411A>G
GRCh37.p13 chr 2 NC_000002.11:g.166847921A>G
SCN1A RefSeqGene (LRG_8) NG_011906.1:g.87229T>C
Gene: SCN1A, sodium voltage-gated channel alpha subunit 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SCN1A transcript variant 3 NM_001165964.3:c.5780T>C I [ATA] > T [ACA] Coding Sequence Variant
sodium channel protein type 1 subunit alpha isoform 3 NP_001159436.1:p.Ile1927T…

NP_001159436.1:p.Ile1927Thr

 		I (Ile) > T (Thr) Missense Variant
SCN1A transcript variant 14 NM_001353960.2:c.5777T>C I [ATA] > T [ACA] Coding Sequence Variant
sodium channel protein type 1 subunit alpha isoform 5 NP_001340889.1:p.Ile1926T…

NP_001340889.1:p.Ile1926Thr

 		I (Ile) > T (Thr) Missense Variant
SCN1A transcript variant 13 NM_001353958.2:c.5780T>C I [ATA] > T [ACA] Coding Sequence Variant
sodium channel protein type 1 subunit alpha isoform 3 NP_001340887.1:p.Ile1927T…

NP_001340887.1:p.Ile1927Thr

 		I (Ile) > T (Thr) Missense Variant
SCN1A transcript variant 10 NM_001353954.2:c.5828T>C I [ATA] > T [ACA] Coding Sequence Variant
sodium channel protein type 1 subunit alpha isoform 4 NP_001340883.1:p.Ile1943T…

NP_001340883.1:p.Ile1943Thr

 		I (Ile) > T (Thr) Missense Variant
SCN1A transcript variant 12 NM_001353957.2:c.5780T>C I [ATA] > T [ACA] Coding Sequence Variant
sodium channel protein type 1 subunit alpha isoform 3 NP_001340886.1:p.Ile1927T…

NP_001340886.1:p.Ile1927Thr

 		I (Ile) > T (Thr) Missense Variant
SCN1A transcript variant 5 NM_001353948.2:c.5864T>C I [ATA] > T [ACA] Coding Sequence Variant
sodium channel protein type 1 subunit alpha isoform 1 NP_001340877.1:p.Ile1955T…

NP_001340877.1:p.Ile1955Thr

 		I (Ile) > T (Thr) Missense Variant
SCN1A transcript variant 11 NM_001353955.2:c.5828T>C I [ATA] > T [ACA] Coding Sequence Variant
sodium channel protein type 1 subunit alpha isoform 4 NP_001340884.1:p.Ile1943T…

NP_001340884.1:p.Ile1943Thr

 		I (Ile) > T (Thr) Missense Variant
SCN1A transcript variant 4 NM_001202435.3:c.5864T>C I [ATA] > T [ACA] Coding Sequence Variant
sodium channel protein type 1 subunit alpha isoform 1 NP_001189364.1:p.Ile1955T…

NP_001189364.1:p.Ile1955Thr

 		I (Ile) > T (Thr) Missense Variant
SCN1A transcript variant 2 NM_006920.6:c.5831T>C I [ATA] > T [ACA] Coding Sequence Variant
sodium channel protein type 1 subunit alpha isoform 2 NP_008851.3:p.Ile1944Thr I (Ile) > T (Thr) Missense Variant
SCN1A transcript variant 15 NM_001353961.2:c.3422T>C I [ATA] > T [ACA] Coding Sequence Variant
sodium channel protein type 1 subunit alpha isoform 6 NP_001340890.1:p.Ile1141T…

NP_001340890.1:p.Ile1141Thr

 		I (Ile) > T (Thr) Missense Variant
SCN1A transcript variant 7 NM_001353950.2:c.5831T>C I [ATA] > T [ACA] Coding Sequence Variant
sodium channel protein type 1 subunit alpha isoform 2 NP_001340879.1:p.Ile1944T…

NP_001340879.1:p.Ile1944Thr

 		I (Ile) > T (Thr) Missense Variant
SCN1A transcript variant 6 NM_001353949.2:c.5831T>C I [ATA] > T [ACA] Coding Sequence Variant
sodium channel protein type 1 subunit alpha isoform 2 NP_001340878.1:p.Ile1944T…

NP_001340878.1:p.Ile1944Thr

 		I (Ile) > T (Thr) Missense Variant
SCN1A transcript variant 8 NM_001353951.2:c.5831T>C I [ATA] > T [ACA] Coding Sequence Variant
sodium channel protein type 1 subunit alpha isoform 2 NP_001340880.1:p.Ile1944T…

NP_001340880.1:p.Ile1944Thr

 		I (Ile) > T (Thr) Missense Variant
SCN1A transcript variant 9 NM_001353952.2:c.5831T>C I [ATA] > T [ACA] Coding Sequence Variant
sodium channel protein type 1 subunit alpha isoform 2 NP_001340881.1:p.Ile1944T…

NP_001340881.1:p.Ile1944Thr

 		I (Ile) > T (Thr) Missense Variant
SCN1A transcript variant 1 NM_001165963.4:c.5864T>C I [ATA] > T [ACA] Coding Sequence Variant
sodium channel protein type 1 subunit alpha isoform 1 NP_001159435.1:p.Ile1955T…

NP_001159435.1:p.Ile1955Thr

 		I (Ile) > T (Thr) Missense Variant
SCN1A transcript variant 16 NR_148667.2:n.6281T>C N/A Non Coding Transcript Variant
SCN1A transcript variant X2 XM_047445393.1:c. N/A Genic Downstream Transcript Variant
SCN1A transcript variant X1 XM_047445392.1:c.5861T>C I [ATA] > T [ACA] Coding Sequence Variant
sodium channel protein type 1 subunit alpha isoform X1 XP_047301348.1:p.Ile1954T…

XP_047301348.1:p.Ile1954Thr

 		I (Ile) > T (Thr) Missense Variant
Gene: LOC102724058, uncharacterized LOC102724058 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC102724058 transcript NR_110598.1: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: G (allele ID: 99564 )
ClinVar Accession Disease Names Clinical Significance
RCV000079592.13 not specified Benign
RCV000224940.5 not provided Likely-Benign
RCV000344701.4 Epilepsy Likely-Benign
RCV000395905.4 Migraine, familial hemiplegic, 3 Likely-Benign
RCV000716161.2 History of neurodevelopmental disorder Benign
RCV001082156.6 Early infantile epileptic encephalopathy with suppression bursts Benign
RCV001133025.3 Generalized epilepsy with febrile seizures plus, type 2 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 A= G
GRCh38.p14 chr 2 NC_000002.12:g.165991411= NC_000002.12:g.165991411A>G
GRCh37.p13 chr 2 NC_000002.11:g.166847921= NC_000002.11:g.166847921A>G
SCN1A RefSeqGene (LRG_8) NG_011906.1:g.87229= NG_011906.1:g.87229T>C
SCN1A transcript variant 2 NM_006920.6:c.5831= NM_006920.6:c.5831T>C
SCN1A transcript variant 2 NM_006920.5:c.5831= NM_006920.5:c.5831T>C
SCN1A transcript variant 2 NM_006920.4:c.5831= NM_006920.4:c.5831T>C
SCN1A transcript variant 1 NM_001165963.4:c.5864= NM_001165963.4:c.5864T>C
SCN1A transcript variant 1 NM_001165963.3:c.5864= NM_001165963.3:c.5864T>C
SCN1A transcript variant 1 NM_001165963.2:c.5864= NM_001165963.2:c.5864T>C
SCN1A transcript variant 1 NM_001165963.1:c.5864= NM_001165963.1:c.5864T>C
SCN1A transcript variant 4 NM_001202435.3:c.5864= NM_001202435.3:c.5864T>C
SCN1A transcript variant 4 NM_001202435.2:c.5864= NM_001202435.2:c.5864T>C
SCN1A transcript variant 4 NM_001202435.1:c.5864= NM_001202435.1:c.5864T>C
SCN1A transcript variant 3 NM_001165964.3:c.5780= NM_001165964.3:c.5780T>C
SCN1A transcript variant 3 NM_001165964.2:c.5780= NM_001165964.2:c.5780T>C
SCN1A transcript variant 3 NM_001165964.1:c.5780= NM_001165964.1:c.5780T>C
SCN1A transcript variant 15 NM_001353961.2:c.3422= NM_001353961.2:c.3422T>C
SCN1A transcript variant 15 NM_001353961.1:c.3422= NM_001353961.1:c.3422T>C
SCN1A transcript variant 7 NM_001353950.2:c.5831= NM_001353950.2:c.5831T>C
SCN1A transcript variant 7 NM_001353950.1:c.5831= NM_001353950.1:c.5831T>C
SCN1A transcript variant 9 NM_001353952.2:c.5831= NM_001353952.2:c.5831T>C
SCN1A transcript variant 9 NM_001353952.1:c.5831= NM_001353952.1:c.5831T>C
SCN1A transcript variant 10 NM_001353954.2:c.5828= NM_001353954.2:c.5828T>C
SCN1A transcript variant 10 NM_001353954.1:c.5828= NM_001353954.1:c.5828T>C
SCN1A transcript variant 16 NR_148667.2:n.6281= NR_148667.2:n.6281T>C
SCN1A transcript variant 16 NR_148667.1:n.6300= NR_148667.1:n.6300T>C
SCN1A transcript variant 13 NM_001353958.2:c.5780= NM_001353958.2:c.5780T>C
SCN1A transcript variant 13 NM_001353958.1:c.5780= NM_001353958.1:c.5780T>C
SCN1A transcript variant 5 NM_001353948.2:c.5864= NM_001353948.2:c.5864T>C
SCN1A transcript variant 5 NM_001353948.1:c.5864= NM_001353948.1:c.5864T>C
SCN1A transcript variant 14 NM_001353960.2:c.5777= NM_001353960.2:c.5777T>C
SCN1A transcript variant 14 NM_001353960.1:c.5777= NM_001353960.1:c.5777T>C
SCN1A transcript variant 6 NM_001353949.2:c.5831= NM_001353949.2:c.5831T>C
SCN1A transcript variant 6 NM_001353949.1:c.5831= NM_001353949.1:c.5831T>C
SCN1A transcript variant 8 NM_001353951.2:c.5831= NM_001353951.2:c.5831T>C
SCN1A transcript variant 8 NM_001353951.1:c.5831= NM_001353951.1:c.5831T>C
SCN1A transcript variant 11 NM_001353955.2:c.5828= NM_001353955.2:c.5828T>C
SCN1A transcript variant 11 NM_001353955.1:c.5828= NM_001353955.1:c.5828T>C
SCN1A transcript variant 12 NM_001353957.2:c.5780= NM_001353957.2:c.5780T>C
SCN1A transcript variant 12 NM_001353957.1:c.5780= NM_001353957.1:c.5780T>C
SCN1A transcript variant X1 XM_047445392.1:c.5861= XM_047445392.1:c.5861T>C
sodium channel protein type 1 subunit alpha isoform 2 NP_008851.3:p.Ile1944= NP_008851.3:p.Ile1944Thr
sodium channel protein type 1 subunit alpha isoform 1 NP_001159435.1:p.Ile1955= NP_001159435.1:p.Ile1955Thr
sodium channel protein type 1 subunit alpha isoform 1 NP_001189364.1:p.Ile1955= NP_001189364.1:p.Ile1955Thr
sodium channel protein type 1 subunit alpha isoform 3 NP_001159436.1:p.Ile1927= NP_001159436.1:p.Ile1927Thr
sodium channel protein type 1 subunit alpha isoform 6 NP_001340890.1:p.Ile1141= NP_001340890.1:p.Ile1141Thr
sodium channel protein type 1 subunit alpha isoform 2 NP_001340879.1:p.Ile1944= NP_001340879.1:p.Ile1944Thr
sodium channel protein type 1 subunit alpha isoform 2 NP_001340881.1:p.Ile1944= NP_001340881.1:p.Ile1944Thr
sodium channel protein type 1 subunit alpha isoform 4 NP_001340883.1:p.Ile1943= NP_001340883.1:p.Ile1943Thr
sodium channel protein type 1 subunit alpha isoform 3 NP_001340887.1:p.Ile1927= NP_001340887.1:p.Ile1927Thr
sodium channel protein type 1 subunit alpha isoform 1 NP_001340877.1:p.Ile1955= NP_001340877.1:p.Ile1955Thr
sodium channel protein type 1 subunit alpha isoform 5 NP_001340889.1:p.Ile1926= NP_001340889.1:p.Ile1926Thr
sodium channel protein type 1 subunit alpha isoform 2 NP_001340878.1:p.Ile1944= NP_001340878.1:p.Ile1944Thr
sodium channel protein type 1 subunit alpha isoform 2 NP_001340880.1:p.Ile1944= NP_001340880.1:p.Ile1944Thr
sodium channel protein type 1 subunit alpha isoform 4 NP_001340884.1:p.Ile1943= NP_001340884.1:p.Ile1943Thr
sodium channel protein type 1 subunit alpha isoform 3 NP_001340886.1:p.Ile1927= NP_001340886.1:p.Ile1927Thr
sodium channel protein type 1 subunit alpha isoform X1 XP_047301348.1:p.Ile1954= XP_047301348.1:p.Ile1954Thr
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#.

56 SubSNP, 12 Frequency, 7 ClinVar submissions
No Submitter Submission ID Date (Build)
1 APPLERA_GI ss48405416 Mar 15, 2006 (126)
2 SEATTLESEQ ss159702999 Dec 01, 2009 (131)
3 1000GENOMES ss219633133 Jul 14, 2010 (132)
4 NHLBI-ESP ss342084700 May 09, 2011 (134)
5 ILLUMINA ss480715718 May 04, 2012 (137)
6 ILLUMINA ss483948873 May 04, 2012 (137)
7 1000GENOMES ss489838590 May 04, 2012 (137)
8 EXOME_CHIP ss491326340 May 04, 2012 (137)
9 ILLUMINA ss533902029 Sep 08, 2015 (146)
10 ILLUMINA ss779087769 Sep 08, 2015 (146)
11 ILLUMINA ss780806226 Sep 08, 2015 (146)
12 ILLUMINA ss781300156 Sep 08, 2015 (146)
13 ILLUMINA ss783487893 Sep 08, 2015 (146)
14 ILLUMINA ss834551603 Sep 08, 2015 (146)
15 JMKIDD_LAB ss1067442025 Aug 21, 2014 (142)
16 JMKIDD_LAB ss1069674803 Aug 21, 2014 (142)
17 1000GENOMES ss1300274958 Aug 21, 2014 (142)
18 EVA_EXAC ss1686574885 Apr 01, 2015 (144)
19 ILLUMINA ss1752321336 Sep 08, 2015 (146)
20 ILLUMINA ss1917755406 Feb 12, 2016 (147)
21 ILLUMINA ss1946057026 Feb 12, 2016 (147)
22 ILLUMINA ss1958475409 Feb 12, 2016 (147)
23 HUMAN_LONGEVITY ss2236263331 Dec 20, 2016 (150)
24 ILLUMINA ss2633699867 Nov 08, 2017 (151)
25 GNOMAD ss2733079815 Nov 08, 2017 (151)
26 GNOMAD ss2746806667 Nov 08, 2017 (151)
27 GNOMAD ss2782383702 Nov 08, 2017 (151)
28 AFFY ss2985811369 Nov 08, 2017 (151)
29 ILLUMINA ss3022036525 Nov 08, 2017 (151)
30 ILLUMINA ss3628212943 Oct 11, 2018 (152)
31 ILLUMINA ss3628212944 Oct 11, 2018 (152)
32 ILLUMINA ss3631661773 Oct 11, 2018 (152)
33 ILLUMINA ss3634796641 Oct 11, 2018 (152)
34 ILLUMINA ss3640503940 Oct 11, 2018 (152)
35 ILLUMINA ss3644759648 Oct 11, 2018 (152)
36 ILLUMINA ss3652479908 Oct 11, 2018 (152)
37 ILLUMINA ss3725841901 Jul 13, 2019 (153)
38 ILLUMINA ss3744482420 Jul 13, 2019 (153)
39 ILLUMINA ss3745096492 Jul 13, 2019 (153)
40 PAGE_CC ss3770962052 Jul 13, 2019 (153)
41 ILLUMINA ss3772593095 Jul 13, 2019 (153)
42 KHV_HUMAN_GENOMES ss3802030801 Jul 13, 2019 (153)
43 EVA ss3823821907 Apr 25, 2020 (154)
44 SGDP_PRJ ss3853892876 Apr 25, 2020 (154)
45 KOGIC ss3949424077 Apr 25, 2020 (154)
46 EVA ss3984447724 Apr 26, 2021 (155)
47 EVA ss3986202353 Apr 26, 2021 (155)
48 TOPMED ss4532421317 Apr 26, 2021 (155)
49 1000G_HIGH_COVERAGE ss5250834356 Oct 12, 2022 (156)
50 EVA ss5333856013 Oct 12, 2022 (156)
51 HUGCELL_USP ss5450566402 Oct 12, 2022 (156)
52 1000G_HIGH_COVERAGE ss5527553882 Oct 12, 2022 (156)
53 SANFORD_IMAGENETICS ss5630277549 Oct 12, 2022 (156)
54 EVA ss5847889858 Oct 12, 2022 (156)
55 EVA ss5933325863 Oct 12, 2022 (156)
56 EVA ss5956499606 Oct 12, 2022 (156)
57 1000Genomes NC_000002.11 - 166847921 Oct 11, 2018 (152)
58 1000Genomes_30x NC_000002.12 - 165991411 Oct 12, 2022 (156)
59 ExAC NC_000002.11 - 166847921 Oct 11, 2018 (152)
60 gnomAD - Genomes NC_000002.12 - 165991411 Apr 26, 2021 (155)
61 gnomAD - Exomes NC_000002.11 - 166847921 Jul 13, 2019 (153)
62 GO Exome Sequencing Project NC_000002.11 - 166847921 Oct 11, 2018 (152)
63 Korean Genome Project NC_000002.12 - 165991411 Apr 25, 2020 (154)
64 The PAGE Study NC_000002.12 - 165991411 Jul 13, 2019 (153)
65 MxGDAR/Encodat-PGx NC_000002.11 - 166847921 Apr 26, 2021 (155)
66 SGDP_PRJ NC_000002.11 - 166847921 Apr 25, 2020 (154)
67 TopMed NC_000002.12 - 165991411 Apr 26, 2021 (155)
68 ALFA NC_000002.12 - 165991411 Apr 26, 2021 (155)
69 ClinVar RCV000079592.13 Oct 12, 2022 (156)
70 ClinVar RCV000224940.5 Oct 12, 2022 (156)
71 ClinVar RCV000344701.4 Oct 12, 2022 (156)
72 ClinVar RCV000395905.4 Oct 12, 2022 (156)
73 ClinVar RCV000716161.2 Oct 12, 2022 (156)
74 ClinVar RCV001082156.6 Oct 12, 2022 (156)
75 ClinVar RCV001133025.3 Oct 12, 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
ss483948873 NC_000002.10:166556166:A:G NC_000002.12:165991410:A:G (self)
11326329, 6466445, 2138561, 280341, 725, 5909856, ss219633133, ss342084700, ss480715718, ss489838590, ss491326340, ss533902029, ss779087769, ss780806226, ss781300156, ss783487893, ss834551603, ss1067442025, ss1069674803, ss1300274958, ss1686574885, ss1752321336, ss1917755406, ss1946057026, ss1958475409, ss2633699867, ss2733079815, ss2746806667, ss2782383702, ss2985811369, ss3022036525, ss3628212943, ss3628212944, ss3631661773, ss3634796641, ss3640503940, ss3644759648, ss3652479908, ss3744482420, ss3745096492, ss3772593095, ss3823821907, ss3853892876, ss3984447724, ss3986202353, ss5333856013, ss5630277549, ss5847889858, ss5956499606 NC_000002.11:166847920:A:G NC_000002.12:165991410:A:G (self)
RCV000079592.13, RCV000224940.5, RCV000344701.4, RCV000395905.4, RCV000716161.2, RCV001082156.6, RCV001133025.3, 15079817, 80763587, 5802078, 183521, 336244196, 8471487357, ss2236263331, ss3725841901, ss3770962052, ss3802030801, ss3949424077, ss4532421317, ss5250834356, ss5450566402, ss5527553882, ss5933325863 NC_000002.12:165991410:A:G NC_000002.12:165991410:A:G (self)
ss48405416, ss159702999 NT_005403.17:17057338:A:G NC_000002.12:165991410: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.

3 citations for rs35735053
PMID Title Author Year Journal
18414213 ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Richards CS et al. 2008 Genetics in medicine
23757202 Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Bean LJ et al. 2013 Human mutation
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
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