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rs397514447

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514447(C;C)
Make rs397514447(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position38562413
GeneSCN5A
is asnp
is mentioned by
dbSNPrs397514447
ebirs397514447
HLIrs397514447
Exacrs397514447
Varsomers397514447
Maprs397514447
PheGenIrs397514447
hapmaprs397514447
1000 genomesrs397514447
hgdprs397514447
ensemblrs397514447
gopubmedrs397514447
geneviewrs397514447
scholarrs397514447
googlers397514447
pharmgkbrs397514447
gwascentralrs397514447
openSNPrs397514447
23andMers397514447
23andMe allrs397514447
SNP Nexus

SNPshotrs397514447
SNPdbers397514447
MSV3drs397514447
GWAS Ctlgrs397514447
Max Magnitude0
ClinVar
Risk rs397514447(C;C)
Alt rs397514447(C;C)
Reference rs397514447(T;T)
Significance Pathogenic
Disease Progressive familial heart block type 1A
Variation info
Gene SCN5A
CLNDBN Progressive familial heart block type 1A
Reversed 1
HGVS NC_000003.11:g.38603904A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009975.2,