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rs199472922

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472922(A;C)
Make rs199472922(C;C)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951708
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472922
ebirs199472922
HLIrs199472922
Exacrs199472922
Varsomers199472922
Maprs199472922
PheGenIrs199472922
hapmaprs199472922
1000 genomesrs199472922
hgdprs199472922
ensemblrs199472922
gopubmedrs199472922
geneviewrs199472922
scholarrs199472922
googlers199472922
pharmgkbrs199472922
gwascentralrs199472922
openSNPrs199472922
23andMers199472922
23andMe allrs199472922
SNP Nexus

SNPshotrs199472922
SNPdbers199472922
MSV3drs199472922
GWAS Ctlgrs199472922
Max Magnitude0
ClinVar
Risk rs199472922(C,G;C,G)
Alt rs199472922(C,G;C,G)
Reference rs199472922(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome not provided
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not provided
Reversed 1
HGVS NC_000007.13:g.150648796T>C; NC_000007.13:g.150648796T>G
CLNSRC ClinVar
CLNACC RCV000057943.2, RCV000181807.1, RCV000057942.2,