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rs199472916

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472916(C;T)
Make rs199472916(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951793
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472916
ebirs199472916
HLIrs199472916
Exacrs199472916
Varsomers199472916
Maprs199472916
PheGenIrs199472916
hapmaprs199472916
1000 genomesrs199472916
hgdprs199472916
ensemblrs199472916
gopubmedrs199472916
geneviewrs199472916
scholarrs199472916
googlers199472916
pharmgkbrs199472916
gwascentralrs199472916
openSNPrs199472916
23andMers199472916
23andMe allrs199472916
SNP Nexus

SNPshotrs199472916
SNPdbers199472916
MSV3drs199472916
GWAS Ctlgrs199472916
Max Magnitude0
ClinVar
Risk rs199472916(A,T;A,T)
Alt rs199472916(A,T;A,T)
Reference rs199472916(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome not provided
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not provided
Reversed 1
HGVS NC_000007.13:g.150648881G>A; NC_000007.13:g.150648881G>T
CLNSRC ClinVar
CLNACC RCV000057929.2, RCV000181800.2, RCV000182023.1,