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

rs199472930

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472930(A;G)
Make rs199472930(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951616
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472930
ebirs199472930
HLIrs199472930
Exacrs199472930
Varsomers199472930
Maprs199472930
PheGenIrs199472930
hapmaprs199472930
1000 genomesrs199472930
hgdprs199472930
ensemblrs199472930
gopubmedrs199472930
geneviewrs199472930
scholarrs199472930
googlers199472930
pharmgkbrs199472930
gwascentralrs199472930
openSNPrs199472930
23andMers199472930
23andMe allrs199472930
SNP Nexus

SNPshotrs199472930
SNPdbers199472930
MSV3drs199472930
GWAS Ctlgrs199472930
Max Magnitude0
ClinVar
Risk rs199472930(G;G)
Alt rs199472930(G;G)
Reference rs199472930(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648704T>C
CLNSRC ClinVar
CLNACC RCV000057983.2,