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rs199472946

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472946(A;G)
Make rs199472946(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951546
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472946
ebirs199472946
HLIrs199472946
Exacrs199472946
Varsomers199472946
Maprs199472946
PheGenIrs199472946
hapmaprs199472946
1000 genomesrs199472946
hgdprs199472946
ensemblrs199472946
gopubmedrs199472946
geneviewrs199472946
scholarrs199472946
googlers199472946
pharmgkbrs199472946
gwascentralrs199472946
openSNPrs199472946
23andMers199472946
23andMe allrs199472946
SNP Nexus

SNPshotrs199472946
SNPdbers199472946
MSV3drs199472946
GWAS Ctlgrs199472946
Max Magnitude0
ClinVar
Risk rs199472946(G;G)
Alt rs199472946(G;G)
Reference rs199472946(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome not provided
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome Long QT syndrome not provided
Reversed 1
HGVS NC_000007.13:g.150648634T>C
CLNSRC ClinVar
CLNACC RCV000058013.2, RCV000157265.2, RCV000182032.1,