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rs199472971

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472971(C;T)
Make rs199472971(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951471
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472971
ebirs199472971
HLIrs199472971
Exacrs199472971
Varsomers199472971
Maprs199472971
PheGenIrs199472971
hapmaprs199472971
1000 genomesrs199472971
hgdprs199472971
ensemblrs199472971
gopubmedrs199472971
geneviewrs199472971
scholarrs199472971
googlers199472971
pharmgkbrs199472971
gwascentralrs199472971
openSNPrs199472971
23andMers199472971
23andMe allrs199472971
SNP Nexus

SNPshotrs199472971
SNPdbers199472971
MSV3drs199472971
GWAS Ctlgrs199472971
Max Magnitude0
ClinVar
Risk rs199472971(T;T)
Alt rs199472971(T;T)
Reference rs199472971(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648559G>A
CLNSRC ClinVar
CLNACC RCV000058056.2,