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rs199473256

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473256(G;G)
Make rs199473256(G;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38556460
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473256
ebirs199473256
HLIrs199473256
Exacrs199473256
Varsomers199473256
Maprs199473256
PheGenIrs199473256
hapmaprs199473256
1000 genomesrs199473256
hgdprs199473256
ensemblrs199473256
gopubmedrs199473256
geneviewrs199473256
scholarrs199473256
googlers199473256
pharmgkbrs199473256
gwascentralrs199473256
openSNPrs199473256
23andMers199473256
23andMe allrs199473256
SNP Nexus

SNPshotrs199473256
SNPdbers199473256
MSV3drs199473256
GWAS Ctlgrs199473256
Max Magnitude0
ClinVar
Risk rs199473256(C,G;C,G)
Alt rs199473256(C,G;C,G)
Reference rs199473256(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38597951A>C; NC_000003.11:g.38597951A>G
CLNSRC ClinVar
CLNACC RCV000058672.2, RCV000058671.2,