Have questions? Visit https://www.reddit.com/r/SNPedia

rs137854608

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854608(A;A)
Make rs137854608(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position38609776
GeneSCN5A
is asnp
is mentioned by
dbSNPrs137854608
ebirs137854608
HLIrs137854608
Exacrs137854608
Varsomers137854608
Maprs137854608
PheGenIrs137854608
hapmaprs137854608
1000 genomesrs137854608
hgdprs137854608
ensemblrs137854608
gopubmedrs137854608
geneviewrs137854608
scholarrs137854608
googlers137854608
pharmgkbrs137854608
gwascentralrs137854608
openSNPrs137854608
23andMers137854608
23andMe allrs137854608
SNP Nexus

SNPshotrs137854608
SNPdbers137854608
MSV3drs137854608
GWAS Ctlgrs137854608
Max Magnitude0
OMIM600163
Desc
Variant0018
Relatedalso
ClinVar
Risk rs137854608(A;A)
Alt rs137854608(A;A)
Reference rs137854608(G;G)
Significance Pathogenic
Disease Progressive familial heart block type 1A Atrioventricular block not specified
Variation info
Gene SCN5A
CLNDBN Progressive familial heart block type 1A Atrioventricular block not specified
Reversed 1
HGVS NC_000003.11:g.38651267C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009985.2, RCV000058858.2, RCV000151803.2,


[PMID 11804990] Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.


[PMID 19056759OA-icon.png] Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy.