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rs199473527

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473527(C;T)
Make rs199473527(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951499
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473527
ebirs199473527
HLIrs199473527
Exacrs199473527
Varsomers199473527
Maprs199473527
PheGenIrs199473527
hapmaprs199473527
1000 genomesrs199473527
hgdprs199473527
ensemblrs199473527
gopubmedrs199473527
geneviewrs199473527
scholarrs199473527
googlers199473527
pharmgkbrs199473527
gwascentralrs199473527
openSNPrs199473527
23andMers199473527
23andMe allrs199473527
SNP Nexus

SNPshotrs199473527
SNPdbers199473527
MSV3drs199473527
GWAS Ctlgrs199473527
Max Magnitude0
ClinVar
Risk rs199473527(T;T)
Alt rs199473527(T;T)
Reference rs199473527(C;C)
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.150648587G>A
CLNSRC ClinVar
CLNACC RCV000058040.2, RCV000181824.1,