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rs199473531

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473531(C;C)
Make rs199473531(C;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150950979
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473531
ebirs199473531
HLIrs199473531
Exacrs199473531
Varsomers199473531
Maprs199473531
PheGenIrs199473531
hapmaprs199473531
1000 genomesrs199473531
hgdprs199473531
ensemblrs199473531
gopubmedrs199473531
geneviewrs199473531
scholarrs199473531
googlers199473531
pharmgkbrs199473531
gwascentralrs199473531
openSNPrs199473531
23andMers199473531
23andMe allrs199473531
SNP Nexus

SNPshotrs199473531
SNPdbers199473531
MSV3drs199473531
GWAS Ctlgrs199473531
Max Magnitude0
ClinVar
Risk rs199473531(A,C;A,C)
Alt rs199473531(A,C;A,C)
Reference rs199473531(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.150648067C>G
CLNSRC ClinVar
CLNACC RCV000058081.2,