Have questions? Visit https://www.reddit.com/r/SNPedia

rs199472854

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472854(A;C)
Make rs199472854(C;C)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974722
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472854
ebirs199472854
HLIrs199472854
Exacrs199472854
Varsomers199472854
Maprs199472854
PheGenIrs199472854
hapmaprs199472854
1000 genomesrs199472854
hgdprs199472854
ensemblrs199472854
gopubmedrs199472854
geneviewrs199472854
scholarrs199472854
googlers199472854
pharmgkbrs199472854
gwascentralrs199472854
openSNPrs199472854
23andMers199472854
23andMe allrs199472854
SNP Nexus

SNPshotrs199472854
SNPdbers199472854
MSV3drs199472854
GWAS Ctlgrs199472854
Max Magnitude0
ClinVar
Risk rs199472854(C,G;C,G)
Alt rs199472854(C,G;C,G)
Reference rs199472854(A;A)
Significance Pathogenic
Disease not provided Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN not provided Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150671810T>C; NC_000007.13:g.150671810T>G
CLNSRC ClinVar
CLNACC RCV000181947.1, RCV000058184.2,