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rs199473532

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473532(A;G)
Make rs199473532(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150950935
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473532
ebirs199473532
HLIrs199473532
Exacrs199473532
Varsomers199473532
Maprs199473532
PheGenIrs199473532
hapmaprs199473532
1000 genomesrs199473532
hgdprs199473532
ensemblrs199473532
gopubmedrs199473532
geneviewrs199473532
scholarrs199473532
googlers199473532
pharmgkbrs199473532
gwascentralrs199473532
openSNPrs199473532
23andMers199473532
23andMe allrs199473532
SNP Nexus

SNPshotrs199473532
SNPdbers199473532
MSV3drs199473532
GWAS Ctlgrs199473532
Max Magnitude0
ClinVar
Risk rs199473532(G;G)
Alt rs199473532(G;G)
Reference rs199473532(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.150648023T>C
CLNSRC ClinVar University of Washington
CLNACC RCV000058087.2, RCV000148537.1, RCV000181838.1,