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

rs199472912

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472912(C;C)
Make rs199472912(C;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150952481
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472912
ebirs199472912
HLIrs199472912
Exacrs199472912
Varsomers199472912
Maprs199472912
PheGenIrs199472912
hapmaprs199472912
1000 genomesrs199472912
hgdprs199472912
ensemblrs199472912
gopubmedrs199472912
geneviewrs199472912
scholarrs199472912
googlers199472912
pharmgkbrs199472912
gwascentralrs199472912
openSNPrs199472912
23andMers199472912
23andMe allrs199472912
SNP Nexus

SNPshotrs199472912
SNPdbers199472912
MSV3drs199472912
GWAS Ctlgrs199472912
Max Magnitude0
ClinVar
Risk rs199472912(A,C;A,C)
Alt rs199472912(A,C;A,C)
Reference rs199472912(G;G)
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.150649569C>G; NC_000007.13:g.150649569C>T
CLNSRC ClinVar
CLNACC RCV000057918.2, RCV000057917.2, RCV000181794.2,