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rs199472911

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472911(A;C)
Make rs199472911(C;C)
ReferenceGRCh38 38.1/142
Chromosome7
Position150952504
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472911
ebirs199472911
HLIrs199472911
Exacrs199472911
Varsomers199472911
Maprs199472911
PheGenIrs199472911
hapmaprs199472911
1000 genomesrs199472911
hgdprs199472911
ensemblrs199472911
gopubmedrs199472911
geneviewrs199472911
scholarrs199472911
googlers199472911
pharmgkbrs199472911
gwascentralrs199472911
openSNPrs199472911
23andMers199472911
23andMe allrs199472911
SNP Nexus

SNPshotrs199472911
SNPdbers199472911
MSV3drs199472911
GWAS Ctlgrs199472911
Max Magnitude0
ClinVar
Risk rs199472911(C,G,T;C,G,T)
Alt rs199472911(C,G,T;C,G,T)
Reference rs199472911(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.150649592T>A; NC_000007.13:g.150649592T>C; NC_000007.13:g.150649592T>G
CLNSRC ClinVar
CLNACC RCV000057916.2, RCV000057915.2, RCV000057914.2,