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rs199472974

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472974(A;T)
Make rs199472974(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951460
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472974
ebirs199472974
HLIrs199472974
Exacrs199472974
Varsomers199472974
Maprs199472974
PheGenIrs199472974
hapmaprs199472974
1000 genomesrs199472974
hgdprs199472974
ensemblrs199472974
gopubmedrs199472974
geneviewrs199472974
scholarrs199472974
googlers199472974
pharmgkbrs199472974
gwascentralrs199472974
openSNPrs199472974
23andMers199472974
23andMe allrs199472974
SNP Nexus

SNPshotrs199472974
SNPdbers199472974
MSV3drs199472974
GWAS Ctlgrs199472974
Max Magnitude0
ClinVar
Risk rs199472974(G,T;G,T)
Alt rs199472974(G,T;G,T)
Reference rs199472974(A;A)
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.150648548T>A; NC_000007.13:g.150648548T>C
CLNSRC ClinVar
CLNACC RCV000058061.2, RCV000058060.2, RCV000181830.1,