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rs199473157

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473157(A;A)
Make rs199473157(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38587522
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473157
ebirs199473157
HLIrs199473157
Exacrs199473157
Varsomers199473157
Maprs199473157
PheGenIrs199473157
hapmaprs199473157
1000 genomesrs199473157
hgdprs199473157
ensemblrs199473157
gopubmedrs199473157
geneviewrs199473157
scholarrs199473157
googlers199473157
pharmgkbrs199473157
gwascentralrs199473157
openSNPrs199473157
23andMers199473157
23andMe allrs199473157
SNP Nexus

SNPshotrs199473157
SNPdbers199473157
MSV3drs199473157
GWAS Ctlgrs199473157
Max Magnitude0
ClinVar
Risk rs199473157(A;A)
Alt rs199473157(A;A)
Reference rs199473157(G;G)
Significance Pathogenic
Disease not specified Congenital long QT syndrome Primary dilated cardiomyopathy Cardiomyopathy Brugada syndrome
Variation info
Gene SCN5A
CLNDBN not specified Congenital long QT syndrome Primary dilated cardiomyopathy Cardiomyopathy Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38629013C>T
CLNSRC ClinVar
CLNACC RCV000041609.4, RCV000058495.2, RCV000157485.1, RCV000201502.1, RCV000229288.1,