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rs199472894

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472894(C;T)
Make rs199472894(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150952720
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472894
ebirs199472894
HLIrs199472894
Exacrs199472894
Varsomers199472894
Maprs199472894
PheGenIrs199472894
hapmaprs199472894
1000 genomesrs199472894
hgdprs199472894
ensemblrs199472894
gopubmedrs199472894
geneviewrs199472894
scholarrs199472894
googlers199472894
pharmgkbrs199472894
gwascentralrs199472894
openSNPrs199472894
23andMers199472894
23andMe allrs199472894
SNP Nexus

SNPshotrs199472894
SNPdbers199472894
MSV3drs199472894
GWAS Ctlgrs199472894
Max Magnitude0
ClinVar
Risk rs199472894(A,T;A,T)
Alt rs199472894(A,T;A,T)
Reference rs199472894(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.150649808G>A; NC_000007.13:g.150649808G>T
CLNSRC ClinVar
CLNACC RCV000057880.2, RCV000181785.1, RCV000181784.1,