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rs199472969

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472969(G;T)
Make rs199472969(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951479
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472969
ebirs199472969
HLIrs199472969
Exacrs199472969
Varsomers199472969
Maprs199472969
PheGenIrs199472969
hapmaprs199472969
1000 genomesrs199472969
hgdprs199472969
ensemblrs199472969
gopubmedrs199472969
geneviewrs199472969
scholarrs199472969
googlers199472969
pharmgkbrs199472969
gwascentralrs199472969
openSNPrs199472969
23andMers199472969
23andMe allrs199472969
SNP Nexus

SNPshotrs199472969
SNPdbers199472969
MSV3drs199472969
GWAS Ctlgrs199472969
Max Magnitude0
ClinVar
Risk rs199472969(T;T)
Alt rs199472969(T;T)
Reference rs199472969(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648567C>A
CLNSRC ClinVar
CLNACC RCV000058052.2,