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rs199472845

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472845(A;A)
Make rs199472845(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974851
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472845
ebirs199472845
HLIrs199472845
Exacrs199472845
Varsomers199472845
Maprs199472845
PheGenIrs199472845
hapmaprs199472845
1000 genomesrs199472845
hgdprs199472845
ensemblrs199472845
gopubmedrs199472845
geneviewrs199472845
scholarrs199472845
googlers199472845
pharmgkbrs199472845
gwascentralrs199472845
openSNPrs199472845
23andMers199472845
23andMe allrs199472845
SNP Nexus

SNPshotrs199472845
SNPdbers199472845
MSV3drs199472845
GWAS Ctlgrs199472845
Max Magnitude0
ClinVar
Risk rs199472845(A,T;A,T)
Alt rs199472845(A,T;A,T)
Reference rs199472845(G;G)
Significance Pathogenic
Disease not provided Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN not provided Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150671939C>A; NC_000007.13:g.150671939C>T
CLNSRC ClinVar
CLNACC RCV000181931.1, RCV000057938.2,