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rs199473135

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473135(C;T)
Make rs199473135(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38599031
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473135
ebirs199473135
HLIrs199473135
Exacrs199473135
Varsomers199473135
Maprs199473135
PheGenIrs199473135
hapmaprs199473135
1000 genomesrs199473135
hgdprs199473135
ensemblrs199473135
gopubmedrs199473135
geneviewrs199473135
scholarrs199473135
googlers199473135
pharmgkbrs199473135
gwascentralrs199473135
openSNPrs199473135
23andMers199473135
23andMe allrs199473135
SNP Nexus

SNPshotrs199473135
SNPdbers199473135
MSV3drs199473135
GWAS Ctlgrs199473135
Max Magnitude0
ClinVar
Risk rs199473135(T;T)
Alt rs199473135(T;T)
Reference rs199473135(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38640522G>A
CLNSRC ClinVar
CLNACC RCV000058460.2,