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rs199473438

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473438(C;T)
Make rs199473438(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150947813
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473438
ebirs199473438
HLIrs199473438
Exacrs199473438
Varsomers199473438
Maprs199473438
PheGenIrs199473438
hapmaprs199473438
1000 genomesrs199473438
hgdprs199473438
ensemblrs199473438
gopubmedrs199473438
geneviewrs199473438
scholarrs199473438
googlers199473438
pharmgkbrs199473438
gwascentralrs199473438
openSNPrs199473438
23andMers199473438
23andMe allrs199473438
SNP Nexus

SNPshotrs199473438
SNPdbers199473438
MSV3drs199473438
GWAS Ctlgrs199473438
Max Magnitude0
ClinVar
Risk rs199473438(G,T;G,T)
Alt rs199473438(G,T;G,T)
Reference rs199473438(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome not specified
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome Long QT syndrome not specified
Reversed 1
HGVS NC_000007.13:g.150644901G>A; NC_000007.13:g.150644901G>C
CLNSRC ClinVar
CLNACC RCV000058159.2, RCV000167982.1, RCV000181889.2,