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.
rs41261344
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr3:38575385 (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>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.003034 (803/264690, TOPMED)T=0.005351 (1292/241456, GnomAD_exome)T=0.003338 (701/209984, ALFA) (+ 18 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- SCN5A : Missense Variant
- Publications
- 26 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 | 226394 | C=0.996837 | T=0.003163 |
| European | Sub | 190232 | C=0.998891 | T=0.001109 |
| African | Sub | 9894 | C=0.9998 | T=0.0002 |
| African Others | Sub | 364 | C=1.000 | T=0.000 |
| African American | Sub | 9530 | C=0.9998 | T=0.0002 |
| Asian | Sub | 6348 | C=0.9439 | T=0.0561 |
| East Asian | Sub | 4498 | C=0.9440 | T=0.0560 |
| Other Asian | Sub | 1850 | C=0.9438 | T=0.0562 |
| Latin American 1 | Sub | 806 | C=1.000 | T=0.000 |
| Latin American 2 | Sub | 986 | C=1.000 | T=0.000 |
| South Asian | Sub | 280 | C=0.996 | T=0.004 |
| Other | Sub | 17848 | C=0.99182 | T=0.00818 |
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=0.996966 | T=0.003034 |
| gnomAD - Exomes | Global | Study-wide | 241456 | C=0.994649 | T=0.005351 |
| gnomAD - Exomes | European | Sub | 129884 | C=0.998914 | T=0.001086 |
| gnomAD - Exomes | Asian | Sub | 47080 | C=0.97627 | T=0.02373 |
| gnomAD - Exomes | American | Sub | 33660 | C=0.99970 | T=0.00030 |
| gnomAD - Exomes | African | Sub | 15052 | C=0.99993 | T=0.00007 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 9834 | C=1.0000 | T=0.0000 |
| gnomAD - Exomes | Other | Sub | 5946 | C=0.9961 | T=0.0039 |
| Allele Frequency Aggregator | Total | Global | 209984 | C=0.996662 | T=0.003338 |
| Allele Frequency Aggregator | European | Sub | 180094 | C=0.998912 | T=0.001088 |
| Allele Frequency Aggregator | Other | Sub | 16414 | C=0.99111 | T=0.00889 |
| Allele Frequency Aggregator | Asian | Sub | 6348 | C=0.9439 | T=0.0561 |
| Allele Frequency Aggregator | African | Sub | 5056 | C=0.9996 | T=0.0004 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 986 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 806 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 280 | C=0.996 | T=0.004 |
| gnomAD - Genomes | Global | Study-wide | 140234 | C=0.997782 | T=0.002218 |
| gnomAD - Genomes | European | Sub | 75934 | C=0.99874 | T=0.00126 |
| gnomAD - Genomes | African | Sub | 42036 | C=0.99986 | T=0.00014 |
| gnomAD - Genomes | American | Sub | 13660 | C=0.99941 | T=0.00059 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | C=1.0000 | T=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3132 | C=0.9406 | T=0.0594 |
| gnomAD - Genomes | Other | Sub | 2150 | C=0.9930 | T=0.0070 |
| ExAC | Global | Study-wide | 87204 | C=0.99378 | T=0.00622 |
| ExAC | Europe | Sub | 53256 | C=0.99872 | T=0.00128 |
| ExAC | Asian | Sub | 18806 | C=0.97517 | T=0.02483 |
| ExAC | African | Sub | 7256 | C=1.0000 | T=0.0000 |
| ExAC | American | Sub | 7254 | C=0.9993 | T=0.0007 |
| ExAC | Other | Sub | 632 | C=0.997 | T=0.003 |
| The PAGE Study | Global | Study-wide | 78676 | C=0.99030 | T=0.00970 |
| The PAGE Study | AfricanAmerican | Sub | 32498 | C=0.99991 | T=0.00009 |
| The PAGE Study | Mexican | Sub | 10804 | C=0.99907 | T=0.00093 |
| The PAGE Study | Asian | Sub | 8316 | C=0.9354 | T=0.0646 |
| The PAGE Study | PuertoRican | Sub | 7918 | C=0.9999 | T=0.0001 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | C=0.9559 | T=0.0441 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.9988 | T=0.0012 |
| The PAGE Study | Dominican | Sub | 3828 | C=1.0000 | T=0.0000 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.9992 | T=0.0008 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=0.9990 | T=0.0010 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.9992 | T=0.0008 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.998 | T=0.002 |
| 14KJPN | JAPANESE | Study-wide | 28258 | C=0.93609 | T=0.06391 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.93711 | T=0.06289 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.9884 | T=0.0116 |
| 1000Genomes_30x | African | Sub | 1786 | C=1.0000 | T=0.0000 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.9976 | T=0.0024 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=1.0000 | T=0.0000 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.9410 | T=0.0590 |
| 1000Genomes_30x | American | Sub | 980 | C=0.998 | T=0.002 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.9876 | T=0.0124 |
| 1000Genomes | African | Sub | 1322 | C=1.0000 | T=0.0000 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.9415 | T=0.0585 |
| 1000Genomes | Europe | Sub | 1006 | C=0.9980 | T=0.0020 |
| 1000Genomes | South Asian | Sub | 978 | C=1.000 | T=0.000 |
| 1000Genomes | American | Sub | 694 | C=0.999 | T=0.001 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.9967 | T=0.0033 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.9992 | T=0.0008 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.9995 | T=0.0005 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | C=0.9517 | T=0.0483 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | C=0.9410 | T=0.0590 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 790 | C=0.944 | T=0.056 |
| CNV burdens in cranial meningiomas | CRM | Sub | 790 | C=0.944 | T=0.056 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 614 | C=0.938 | T=0.062 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.998 | T=0.002 |
| PharmGKB Aggregated | Global | Study-wide | 370 | C=0.989 | T=0.011 |
| PharmGKB Aggregated | PA164061772 | Sub | 370 | C=0.989 | T=0.011 |
| SGDP_PRJ | Global | Study-wide | 18 | C=0.50 | T=0.50 |
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.38575385C>T |
| GRCh37.p13 chr 3 | NC_000003.11:g.38616876C>T |
| SCN5A RefSeqGene (LRG_289) | NG_008934.1:g.79288G>A |
Gene: SCN5A, sodium voltage-gated channel alpha subunit 5
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| SCN5A transcript variant 7 | NM_001354701.2:c.3575G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| sodium channel protein type 5 subunit alpha isoform g |
NP_001341630.1:p.Arg1192G… NP_001341630.1:p.Arg1192Gln |
R (Arg) > Q (Gln) | Missense Variant |
| SCN5A transcript variant 5 | NM_001160160.2:c.3575G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| sodium channel protein type 5 subunit alpha isoform e |
NP_001153632.1:p.Arg1192G… NP_001153632.1:p.Arg1192Gln |
R (Arg) > Q (Gln) | Missense Variant |
| SCN5A transcript variant 2 | NM_000335.5:c.3575G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| sodium channel protein type 5 subunit alpha isoform b | NP_000326.2:p.Arg1192Gln | R (Arg) > Q (Gln) | Missense Variant |
| SCN5A transcript variant 4 | NM_001099405.2:c.3578G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| sodium channel protein type 5 subunit alpha isoform d |
NP_001092875.1:p.Arg1193G… NP_001092875.1:p.Arg1193Gln |
R (Arg) > Q (Gln) | Missense Variant |
| SCN5A transcript variant 3 | NM_001099404.2:c.3578G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| sodium channel protein type 5 subunit alpha isoform c |
NP_001092874.1:p.Arg1193G… NP_001092874.1:p.Arg1193Gln |
R (Arg) > Q (Gln) | Missense Variant |
| SCN5A transcript variant 6 | NM_001160161.2:c.3416G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| sodium channel protein type 5 subunit alpha isoform f |
NP_001153633.1:p.Arg1139G… NP_001153633.1:p.Arg1139Gln |
R (Arg) > Q (Gln) | Missense Variant |
| SCN5A transcript variant 1 | NM_198056.3:c.3578G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| sodium channel protein type 5 subunit alpha isoform a | NP_932173.1:p.Arg1193Gln | R (Arg) > Q (Gln) | Missense Variant |
| SCN5A transcript variant X1 | XM_011533991.3:c.3575G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| sodium channel protein type 5 subunit alpha isoform X1 |
XP_011532293.1:p.Arg1192G… XP_011532293.1:p.Arg1192Gln |
R (Arg) > Q (Gln) | 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: T (allele ID:
24431
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000009990.8 | Brugada syndrome 1 | Benign |
| RCV000009991.5 | Long qt syndrome 3, acquired, susceptibility to | Risk-Factor |
| RCV000058578.13 | not provided | Benign-Likely-Benign |
| RCV000154828.6 | not specified | Benign-Likely-Benign |
| RCV000157488.2 | Primary familial hypertrophic cardiomyopathy | Uncertain-Significance |
| RCV000171819.11 | Brugada syndrome | Benign |
| RCV000252422.2 | Cardiovascular phenotype | Benign |
| RCV000755697.4 | Long QT syndrome 3 | Benign |
| RCV001147624.3 | Progressive familial heart block, type 1A | Likely-Benign |
| RCV001147625.3 | Sick sinus syndrome 1 | Benign |
| RCV001147626.3 | Ventricular fibrillation, paroxysmal familial, type 1 | Benign |
| RCV001147627.3 | Dilated cardiomyopathy 1E | Likely-Benign |
| RCV001841238.2 | Cardiac arrhythmia | 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 | C= | T |
|---|---|---|
| GRCh38.p14 chr 3 | NC_000003.12:g.38575385= | NC_000003.12:g.38575385C>T |
| GRCh37.p13 chr 3 | NC_000003.11:g.38616876= | NC_000003.11:g.38616876C>T |
| SCN5A RefSeqGene (LRG_289) | NG_008934.1:g.79288= | NG_008934.1:g.79288G>A |
| SCN5A transcript variant 2 | NM_000335.5:c.3575= | NM_000335.5:c.3575G>A |
| SCN5A transcript variant 2 | NM_000335.4:c.3575= | NM_000335.4:c.3575G>A |
| SCN5A transcript variant 1 | NM_198056.3:c.3578= | NM_198056.3:c.3578G>A |
| SCN5A transcript variant 1 | NM_198056.2:c.3578= | NM_198056.2:c.3578G>A |
| SCN5A transcript variant 3 | NM_001099404.2:c.3578= | NM_001099404.2:c.3578G>A |
| SCN5A transcript variant 3 | NM_001099404.1:c.3578= | NM_001099404.1:c.3578G>A |
| SCN5A transcript variant 4 | NM_001099405.2:c.3578= | NM_001099405.2:c.3578G>A |
| SCN5A transcript variant 4 | NM_001099405.1:c.3578= | NM_001099405.1:c.3578G>A |
| SCN5A transcript variant 7 | NM_001354701.2:c.3575= | NM_001354701.2:c.3575G>A |
| SCN5A transcript variant 7 | NM_001354701.1:c.3575= | NM_001354701.1:c.3575G>A |
| SCN5A transcript variant 5 | NM_001160160.2:c.3575= | NM_001160160.2:c.3575G>A |
| SCN5A transcript variant 5 | NM_001160160.1:c.3575= | NM_001160160.1:c.3575G>A |
| SCN5A transcript variant 6 | NM_001160161.2:c.3416= | NM_001160161.2:c.3416G>A |
| SCN5A transcript variant 6 | NM_001160161.1:c.3416= | NM_001160161.1:c.3416G>A |
| SCN5A transcript variant 11 | NR_176299.1:n.4324= | NR_176299.1:n.4324G>A |
| SCN5A transcript variant X1 | XM_011533991.3:c.3575= | XM_011533991.3:c.3575G>A |
| SCN5A transcript variant X1 | XM_011533991.2:c.3575= | XM_011533991.2:c.3575G>A |
| SCN5A transcript variant X2 | XM_011533991.1:c.3575= | XM_011533991.1:c.3575G>A |
| sodium channel protein type 5 subunit alpha isoform b | NP_000326.2:p.Arg1192= | NP_000326.2:p.Arg1192Gln |
| sodium channel protein type 5 subunit alpha isoform a | NP_932173.1:p.Arg1193= | NP_932173.1:p.Arg1193Gln |
| sodium channel protein type 5 subunit alpha isoform c | NP_001092874.1:p.Arg1193= | NP_001092874.1:p.Arg1193Gln |
| sodium channel protein type 5 subunit alpha isoform d | NP_001092875.1:p.Arg1193= | NP_001092875.1:p.Arg1193Gln |
| sodium channel protein type 5 subunit alpha isoform g | NP_001341630.1:p.Arg1192= | NP_001341630.1:p.Arg1192Gln |
| sodium channel protein type 5 subunit alpha isoform e | NP_001153632.1:p.Arg1192= | NP_001153632.1:p.Arg1192Gln |
| sodium channel protein type 5 subunit alpha isoform f | NP_001153633.1:p.Arg1139= | NP_001153633.1:p.Arg1139Gln |
| sodium channel protein type 5 subunit alpha isoform X1 | XP_011532293.1:p.Arg1192= | XP_011532293.1:p.Arg1192Gln |
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#.
88 SubSNP,
20 Frequency,
13 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | SI_EXO | ss52062632 | Oct 16, 2006 (127) |
| 2 | RSG_JCVI | ss65625802 | Oct 16, 2006 (127) |
| 3 | RSG_UW | ss70458715 | May 18, 2007 (127) |
| 4 | 1000GENOMES | ss239208266 | Jul 15, 2010 (132) |
| 5 | ILLUMINA | ss244267328 | Jul 04, 2010 (132) |
| 6 | PHARMGKB_PAT | ss290491747 | May 09, 2011 (134) |
| 7 | OMIM-CURATED-RECORDS | ss342563252 | Mar 30, 2011 (133) |
| 8 | ILLUMINA | ss410846135 | Sep 17, 2011 (135) |
| 9 | ILLUMINA | ss481481453 | May 04, 2012 (137) |
| 10 | ILLUMINA | ss484581371 | May 04, 2012 (137) |
| 11 | RBH_CV_BRU | ss487105089 | Mar 09, 2012 (136) |
| 12 | 1000GENOMES | ss489871423 | May 04, 2012 (137) |
| 13 | EXOME_CHIP | ss491337435 | May 04, 2012 (137) |
| 14 | CLINSEQ_SNP | ss491831542 | May 04, 2012 (137) |
| 15 | ILLUMINA | ss534289284 | Sep 08, 2015 (146) |
| 16 | SSMP | ss650230586 | Apr 25, 2013 (138) |
| 17 | NHLBI-ESP | ss712511726 | Apr 25, 2013 (138) |
| 18 | ILLUMINA | ss779102864 | Sep 08, 2015 (146) |
| 19 | ILLUMINA | ss780814934 | Sep 08, 2015 (146) |
| 20 | ILLUMINA | ss781492181 | Sep 08, 2015 (146) |
| 21 | ILLUMINA | ss783497071 | Sep 08, 2015 (146) |
| 22 | ILLUMINA | ss834566930 | Sep 08, 2015 (146) |
| 23 | 1000GENOMES | ss1303609898 | Aug 21, 2014 (142) |
| 24 | EVA_DECODE | ss1587960243 | Apr 01, 2015 (144) |
| 25 | EVA_UK10K_ALSPAC | ss1606856031 | Apr 01, 2015 (144) |
| 26 | EVA_UK10K_TWINSUK | ss1649850064 | Apr 01, 2015 (144) |
| 27 | EVA_EXAC | ss1686932872 | Apr 01, 2015 (144) |
| 28 | EVA_MGP | ss1711012888 | Apr 01, 2015 (144) |
| 29 | ILLUMINA | ss1752468377 | Sep 08, 2015 (146) |
| 30 | ILLUMINA | ss1917764993 | Feb 12, 2016 (147) |
| 31 | ILLUMINA | ss1946079395 | Feb 12, 2016 (147) |
| 32 | ILLUMINA | ss1958553688 | Feb 12, 2016 (147) |
| 33 | ACHAKRAVARTILAB | ss1998374539 | Jul 19, 2016 (147) |
| 34 | HUMAN_LONGEVITY | ss2250742872 | Dec 20, 2016 (150) |
| 35 | ILLUMINA | ss2633938140 | Nov 08, 2017 (151) |
| 36 | GRF | ss2704866130 | Nov 08, 2017 (151) |
| 37 | GNOMAD | ss2733639350 | Nov 08, 2017 (151) |
| 38 | GNOMAD | ss2746975280 | Nov 08, 2017 (151) |
| 39 | GNOMAD | ss2791813282 | Nov 08, 2017 (151) |
| 40 | AFFY | ss2985252133 | Nov 08, 2017 (151) |
| 41 | AFFY | ss2985874767 | Nov 08, 2017 (151) |
| 42 | SWEGEN | ss2992153929 | Nov 08, 2017 (151) |
| 43 | ILLUMINA | ss3022229544 | Nov 08, 2017 (151) |
| 44 | ILLUMINA | ss3628636699 | Oct 12, 2018 (152) |
| 45 | ILLUMINA | ss3628636700 | Oct 12, 2018 (152) |
| 46 | ILLUMINA | ss3631884900 | Oct 12, 2018 (152) |
| 47 | ILLUMINA | ss3634889376 | Oct 12, 2018 (152) |
| 48 | ILLUMINA | ss3640596679 | Oct 12, 2018 (152) |
| 49 | ILLUMINA | ss3644811951 | Oct 12, 2018 (152) |
| 50 | ILLUMINA | ss3652698358 | Oct 12, 2018 (152) |
| 51 | ILLUMINA | ss3654020941 | Oct 12, 2018 (152) |
| 52 | EGCUT_WGS | ss3660071640 | Jul 13, 2019 (153) |
| 53 | EVA_DECODE | ss3709038755 | Jul 13, 2019 (153) |
| 54 | ILLUMINA | ss3726006460 | Jul 13, 2019 (153) |
| 55 | ILLUMINA | ss3744507993 | Jul 13, 2019 (153) |
| 56 | ILLUMINA | ss3745189163 | Jul 13, 2019 (153) |
| 57 | EVA | ss3759911949 | Jul 13, 2019 (153) |
| 58 | PAGE_CC | ss3771023778 | Jul 13, 2019 (153) |
| 59 | ILLUMINA | ss3772684895 | Jul 13, 2019 (153) |
| 60 | KHV_HUMAN_GENOMES | ss3803058304 | Jul 13, 2019 (153) |
| 61 | EVA | ss3823897746 | Apr 25, 2020 (154) |
| 62 | EVA | ss3825629699 | Apr 25, 2020 (154) |
| 63 | SGDP_PRJ | ss3855648426 | Apr 25, 2020 (154) |
| 64 | KRGDB | ss3901461423 | Apr 25, 2020 (154) |
| 65 | KOGIC | ss3951051383 | Apr 25, 2020 (154) |
| 66 | EVA | ss3984506193 | Apr 27, 2021 (155) |
| 67 | EVA | ss3986233394 | Apr 27, 2021 (155) |
| 68 | TOPMED | ss4561188798 | Apr 27, 2021 (155) |
| 69 | TOMMO_GENOMICS | ss5158701022 | Apr 27, 2021 (155) |
| 70 | EVA | ss5236995169 | Apr 27, 2021 (155) |
| 71 | EVA | ss5237322179 | Apr 27, 2021 (155) |
| 72 | EVA | ss5237639147 | Oct 13, 2022 (156) |
| 73 | 1000G_HIGH_COVERAGE | ss5253747225 | Oct 13, 2022 (156) |
| 74 | TRAN_CS_UWATERLOO | ss5314406536 | Oct 13, 2022 (156) |
| 75 | EVA | ss5314849705 | Oct 13, 2022 (156) |
| 76 | EVA | ss5339176298 | Oct 13, 2022 (156) |
| 77 | HUGCELL_USP | ss5453176267 | Oct 13, 2022 (156) |
| 78 | 1000G_HIGH_COVERAGE | ss5531938947 | Oct 13, 2022 (156) |
| 79 | SANFORD_IMAGENETICS | ss5624515827 | Oct 13, 2022 (156) |
| 80 | SANFORD_IMAGENETICS | ss5631947328 | Oct 13, 2022 (156) |
| 81 | TOMMO_GENOMICS | ss5690221160 | Oct 13, 2022 (156) |
| 82 | YY_MCH | ss5803657255 | Oct 13, 2022 (156) |
| 83 | EVA | ss5825621947 | Oct 13, 2022 (156) |
| 84 | EVA | ss5847960429 | Oct 13, 2022 (156) |
| 85 | EVA | ss5848579046 | Oct 13, 2022 (156) |
| 86 | EVA | ss5868440158 | Oct 13, 2022 (156) |
| 87 | EVA | ss5960227722 | Oct 13, 2022 (156) |
| 88 | EVA | ss5979652733 | Oct 13, 2022 (156) |
| 89 | 1000Genomes | NC_000003.11 - 38616876 | Oct 12, 2018 (152) |
| 90 | 1000Genomes_30x | NC_000003.12 - 38575385 | Oct 13, 2022 (156) |
| 91 | The Avon Longitudinal Study of Parents and Children | NC_000003.11 - 38616876 | Oct 12, 2018 (152) |
| 92 | Genetic variation in the Estonian population | NC_000003.11 - 38616876 | Oct 12, 2018 (152) |
| 93 | ExAC | NC_000003.11 - 38616876 | Oct 12, 2018 (152) |
| 94 | gnomAD - Genomes | NC_000003.12 - 38575385 | Apr 27, 2021 (155) |
| 95 | gnomAD - Exomes | NC_000003.11 - 38616876 | Jul 13, 2019 (153) |
| 96 | KOREAN population from KRGDB | NC_000003.11 - 38616876 | Apr 25, 2020 (154) |
| 97 | Korean Genome Project | NC_000003.12 - 38575385 | Apr 25, 2020 (154) |
| 98 | Medical Genome Project healthy controls from Spanish population | NC_000003.11 - 38616876 | Apr 25, 2020 (154) |
| 99 | The PAGE Study | NC_000003.12 - 38575385 | Jul 13, 2019 (153) |
| 100 | CNV burdens in cranial meningiomas | NC_000003.11 - 38616876 | Apr 27, 2021 (155) |
| 101 | PharmGKB Aggregated | NC_000003.12 - 38575385 | Apr 25, 2020 (154) |
| 102 | SGDP_PRJ | NC_000003.11 - 38616876 | Apr 25, 2020 (154) |
| 103 | 8.3KJPN | NC_000003.11 - 38616876 | Apr 27, 2021 (155) |
| 104 | 14KJPN | NC_000003.12 - 38575385 | Oct 13, 2022 (156) |
| 105 | TopMed | NC_000003.12 - 38575385 | Apr 27, 2021 (155) |
| 106 | UK 10K study - Twins | NC_000003.11 - 38616876 | Oct 12, 2018 (152) |
| 107 | A Vietnamese Genetic Variation Database | NC_000003.11 - 38616876 | Jul 13, 2019 (153) |
| 108 | ALFA | NC_000003.12 - 38575385 | Apr 27, 2021 (155) |
| 109 | ClinVar | RCV000009990.8 | Oct 13, 2022 (156) |
| 110 | ClinVar | RCV000009991.5 | Oct 13, 2022 (156) |
| 111 | ClinVar | RCV000058578.13 | Oct 13, 2022 (156) |
| 112 | ClinVar | RCV000154828.6 | Oct 13, 2022 (156) |
| 113 | ClinVar | RCV000157488.2 | Oct 13, 2022 (156) |
| 114 | ClinVar | RCV000171819.11 | Oct 13, 2022 (156) |
| 115 | ClinVar | RCV000252422.2 | Oct 13, 2022 (156) |
| 116 | ClinVar | RCV000755697.4 | Oct 13, 2022 (156) |
| 117 | ClinVar | RCV001147624.3 | Oct 13, 2022 (156) |
| 118 | ClinVar | RCV001147625.3 | Oct 13, 2022 (156) |
| 119 | ClinVar | RCV001147626.3 | Oct 13, 2022 (156) |
| 120 | ClinVar | RCV001147627.3 | Oct 13, 2022 (156) |
| 121 | ClinVar | RCV001841238.2 | Oct 13, 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 |
|---|---|---|---|
| ss484581371, ss491831542, ss1587960243 | NC_000003.10:38591879:C:T | NC_000003.12:38575384:C:T | (self) |
| 14784160, 8215047, 5809888, 6852011, 2714247, 8638817, 129427, 55538, 7665406, 16670329, 8215047, 1789208, ss239208266, ss481481453, ss489871423, ss491337435, ss534289284, ss650230586, ss712511726, ss779102864, ss780814934, ss781492181, ss783497071, ss834566930, ss1303609898, ss1606856031, ss1649850064, ss1686932872, ss1711012888, ss1752468377, ss1917764993, ss1946079395, ss1958553688, ss1998374539, ss2633938140, ss2704866130, ss2733639350, ss2746975280, ss2791813282, ss2985252133, ss2985874767, ss2992153929, ss3022229544, ss3628636699, ss3628636700, ss3631884900, ss3634889376, ss3640596679, ss3644811951, ss3652698358, ss3654020941, ss3660071640, ss3744507993, ss3745189163, ss3759911949, ss3772684895, ss3823897746, ss3825629699, ss3855648426, ss3901461423, ss3984506193, ss3986233394, ss5158701022, ss5237322179, ss5314849705, ss5339176298, ss5624515827, ss5631947328, ss5825621947, ss5847960429, ss5848579046, ss5960227722, ss5979652733 | NC_000003.11:38616875:C:T | NC_000003.12:38575384:C:T | (self) |
| RCV000009990.8, RCV000009991.5, RCV000058578.13, RCV000154828.6, RCV000157488.2, RCV000171819.11, RCV000252422.2, RCV000755697.4, RCV001147624.3, RCV001147625.3, RCV001147626.3, RCV001147627.3, RCV001841238.2, 19464882, 104864698, 7429384, 245247, 8177, 24058264, 398566353, 13493180706, ss342563252, ss487105089, ss2250742872, ss3709038755, ss3726006460, ss3771023778, ss3803058304, ss3951051383, ss4561188798, ss5236995169, ss5237639147, ss5253747225, ss5314406536, ss5453176267, ss5531938947, ss5690221160, ss5803657255, ss5868440158 | NC_000003.12:38575384:C:T | NC_000003.12:38575384:C:T | (self) |
| ss52062632 | NT_022517.17:38556879:C:T | NC_000003.12:38575384:C:T | (self) |
| ss65625802, ss70458715, ss244267328, ss290491747, ss410846135 | NT_022517.18:38556875:C:T | NC_000003.12:38575384: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.
26
citations for rs41261344
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 16155 | Cryptorchidism and abdominal pain. | O'Riordan WD et al. | 1977 | JACEP |
| 8661019 | Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. | Wang Q et al. | 1996 | Genomics |
| 11823453 | Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. | Vatta M et al. | 2002 | Human molecular genetics |
| 12639704 | Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects. | Takahata T et al. | 2003 | Life sciences |
| 15121794 | The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel. | Wang Q et al. | 2004 | Journal of medical genetics |
| 15689442 | R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese. | Hwang HW et al. | 2005 | Journal of medical genetics |
| 15851227 | Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. | Ackerman MJ et al. | 2004 | Heart rhythm |
| 16155735 | Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms. | Lai LP et al. | 2005 | Journal of human genetics |
| 16707561 | A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect. | Niu DM et al. | 2006 | Journal of medical genetics |
| 17210839 | Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. | Arnestad M et al. | 2007 | Circulation |
| 17605181 | [The clinical variability of and approaches to treatment of life-threatening ventricular arrhythmias caused by SCN5A gene mutations]. | Bokeria LA et al. | 2007 | Vestnik Rossiiskoi akademii meditsinskikh nauk |
| 17905336 | Long QT and Brugada syndrome gene mutations in New Zealand. | Chung SK et al. | 2007 | Heart rhythm |
| 18245395 | SCN5A R1193Q polymorphism associated with progressive cardiac conduction defects and long QT syndrome in a Chinese family. | Sun A et al. | 2008 | Journal of medical genetics |
| 18976777 | Patient with obstructive sleep apnea-hypopnea syndrome and SCN5A mutation (R1193Q polymorphism) associated with Brugada type 2 electrocardiographic pattern. | Qiu X et al. | 2009 | Journal of electrocardiology |
| 19841300 | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. | Kapa S et al. | 2009 | Circulation |
| 20129283 | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. | Kapplinger JD et al. | 2010 | Heart rhythm |
| 20981092 | A map of human genome variation from population-scale sequencing. | Abecasis GR et al. | 2010 | Nature |
| 22581653 | Paralogous annotation of disease-causing variants in long QT syndrome genes. | Ware JS et al. | 2012 | Human mutation |
| 23820649 | Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. | Cooper DN et al. | 2013 | Human genetics |
| 23861362 | Interpreting secondary cardiac disease variants in an exome cohort. | Ng D et al. | 2013 | Circulation. Cardiovascular genetics |
| 24033266 | A systematic approach to assessing the clinical significance of genetic variants. | Duzkale H et al. | 2013 | Clinical genetics |
| 24297550 | PATH-SCAN: a reporting tool for identifying clinically actionable variants. | Daneshjou R et al. | 2014 | Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing |
| 25678966 | Multiple lithium-dependent Brugada syndrome unmasking events in a bipolar patient. | Crawford RR et al. | 2015 | Clinical case reports |
| 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 |
| 27681629 | Early somatic mosaicism is a rare cause of long-QT syndrome. | Priest JR et al. | 2016 | Proceedings of the National Academy of Sciences of the United States of America |
| 31043699 | Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts. | Paludan-Müller C et al. | 2019 | European journal of human genetics |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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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.
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.