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rs199473192

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473192(C;T)
Make rs199473192(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38579425
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473192
ebirs199473192
HLIrs199473192
Exacrs199473192
Varsomers199473192
Maprs199473192
PheGenIrs199473192
hapmaprs199473192
1000 genomesrs199473192
hgdprs199473192
ensemblrs199473192
gopubmedrs199473192
geneviewrs199473192
scholarrs199473192
googlers199473192
pharmgkbrs199473192
gwascentralrs199473192
openSNPrs199473192
23andMers199473192
23andMe allrs199473192
SNP Nexus

SNPshotrs199473192
SNPdbers199473192
MSV3drs199473192
GWAS Ctlgrs199473192
Max Magnitude0
ClinVar
Risk rs199473192(T;T)
Alt rs199473192(T;T)
Reference rs199473192(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome not specified
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome Long QT syndrome not specified
Reversed 1
HGVS NC_000003.11:g.38620916G>A
CLNSRC ClinVar University of Washington
CLNACC RCV000058562.2, RCV000148851.1, RCV000183030.1,