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rs199473430

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473430(G;T)
Make rs199473430(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951638
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473430
ebirs199473430
HLIrs199473430
Exacrs199473430
Varsomers199473430
Maprs199473430
PheGenIrs199473430
hapmaprs199473430
1000 genomesrs199473430
hgdprs199473430
ensemblrs199473430
gopubmedrs199473430
geneviewrs199473430
scholarrs199473430
googlers199473430
pharmgkbrs199473430
gwascentralrs199473430
openSNPrs199473430
23andMers199473430
23andMe allrs199473430
SNP Nexus

SNPshotrs199473430
SNPdbers199473430
MSV3drs199473430
GWAS Ctlgrs199473430
Max Magnitude0
ClinVar
Risk rs199473430(T;T)
Alt rs199473430(T;T)
Reference rs199473430(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.150648726C>A
CLNSRC ClinVar
CLNACC RCV000057978.2,