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rs199472927

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472927(C;C)
Make rs199472927(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951691
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472927
ebirs199472927
HLIrs199472927
Exacrs199472927
Varsomers199472927
Maprs199472927
PheGenIrs199472927
hapmaprs199472927
1000 genomesrs199472927
hgdprs199472927
ensemblrs199472927
gopubmedrs199472927
geneviewrs199472927
scholarrs199472927
googlers199472927
pharmgkbrs199472927
gwascentralrs199472927
openSNPrs199472927
23andMers199472927
23andMe allrs199472927
SNP Nexus

SNPshotrs199472927
SNPdbers199472927
MSV3drs199472927
GWAS Ctlgrs199472927
Max Magnitude0
ClinVar
Risk rs199472927(C;C)
Alt rs199472927(C;C)
Reference rs199472927(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.150648779A>G
CLNSRC ClinVar
CLNACC RCV000057953.2,