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rs199472862

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472862(G;G)
Make rs199472862(G;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150959673
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472862
ebirs199472862
HLIrs199472862
Exacrs199472862
Varsomers199472862
Maprs199472862
PheGenIrs199472862
hapmaprs199472862
1000 genomesrs199472862
hgdprs199472862
ensemblrs199472862
gopubmedrs199472862
geneviewrs199472862
scholarrs199472862
googlers199472862
pharmgkbrs199472862
gwascentralrs199472862
openSNPrs199472862
23andMers199472862
23andMe allrs199472862
SNP Nexus

SNPshotrs199472862
SNPdbers199472862
MSV3drs199472862
GWAS Ctlgrs199472862
Max Magnitude0
ClinVar
Risk rs199472862(C,G;C,G)
Alt rs199472862(C,G;C,G)
Reference rs199472862(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150656761A>C; NC_000007.13:g.150656761A>G
CLNSRC ClinVar
CLNACC RCV000058230.2, RCV000058229.2,