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rs199473253

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473253(A;A)
Make rs199473253(A;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position38556505
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473253
ebirs199473253
HLIrs199473253
Exacrs199473253
Varsomers199473253
Maprs199473253
PheGenIrs199473253
hapmaprs199473253
1000 genomesrs199473253
hgdprs199473253
ensemblrs199473253
gopubmedrs199473253
geneviewrs199473253
scholarrs199473253
googlers199473253
pharmgkbrs199473253
gwascentralrs199473253
openSNPrs199473253
23andMers199473253
23andMe allrs199473253
SNP Nexus

SNPshotrs199473253
SNPdbers199473253
MSV3drs199473253
GWAS Ctlgrs199473253
Max Magnitude0
ClinVar
Risk rs199473253(A;A)
Alt rs199473253(A;A)
Reference rs199473253(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome not provided
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome not provided
Reversed 1
HGVS NC_000003.11:g.38597996G>T
CLNSRC ClinVar
CLNACC RCV000058667.2, RCV000183071.1,