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

rs199472847

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472847(A;G)
Make rs199472847(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974845
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472847
ebirs199472847
HLIrs199472847
Exacrs199472847
Varsomers199472847
Maprs199472847
PheGenIrs199472847
hapmaprs199472847
1000 genomesrs199472847
hgdprs199472847
ensemblrs199472847
gopubmedrs199472847
geneviewrs199472847
scholarrs199472847
googlers199472847
pharmgkbrs199472847
gwascentralrs199472847
openSNPrs199472847
23andMers199472847
23andMe allrs199472847
SNP Nexus

SNPshotrs199472847
SNPdbers199472847
MSV3drs199472847
GWAS Ctlgrs199472847
Max Magnitude0
ClinVar
Risk rs199472847(C,G;C,G)
Alt rs199472847(C,G;C,G)
Reference rs199472847(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.150671933T>C; NC_000007.13:g.150671933T>G
CLNSRC ClinVar
CLNACC RCV000057969.2, RCV000181920.2, RCV000057968.2,