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rs199472940

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472940(A;G)
Make rs199472940(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951567
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472940
ebirs199472940
HLIrs199472940
Exacrs199472940
Varsomers199472940
Maprs199472940
PheGenIrs199472940
hapmaprs199472940
1000 genomesrs199472940
hgdprs199472940
ensemblrs199472940
gopubmedrs199472940
geneviewrs199472940
scholarrs199472940
googlers199472940
pharmgkbrs199472940
gwascentralrs199472940
openSNPrs199472940
23andMers199472940
23andMe allrs199472940
SNP Nexus

SNPshotrs199472940
SNPdbers199472940
MSV3drs199472940
GWAS Ctlgrs199472940
Max Magnitude0
ClinVar
Risk rs199472940(G;G)
Alt rs199472940(G;G)
Reference rs199472940(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648655T>C
CLNSRC ClinVar
CLNACC RCV000058005.2,