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rs199472933

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472933(A;A)
Make rs199472933(A;C)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951606
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472933
ebirs199472933
HLIrs199472933
Exacrs199472933
Varsomers199472933
Maprs199472933
PheGenIrs199472933
hapmaprs199472933
1000 genomesrs199472933
hgdprs199472933
ensemblrs199472933
gopubmedrs199472933
geneviewrs199472933
scholarrs199472933
googlers199472933
pharmgkbrs199472933
gwascentralrs199472933
openSNPrs199472933
23andMers199472933
23andMe allrs199472933
SNP Nexus

SNPshotrs199472933
SNPdbers199472933
MSV3drs199472933
GWAS Ctlgrs199472933
Max Magnitude0
ClinVar
Risk rs199472933(A,G,T;A,G,T)
Alt rs199472933(A,G,T;A,G,T)
Reference rs199472933(C;C)
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.150648694G>A; NC_000007.13:g.150648694G>C; NC_000007.13:g.150648694G>T
CLNSRC ClinVar
CLNACC RCV000057992.2, RCV000057991.2, RCV000057990.2, RCV000181819.1,