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rs199473511

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473511(G;T)
Make rs199473511(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150952586
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473511
ebirs199473511
HLIrs199473511
Exacrs199473511
Varsomers199473511
Maprs199473511
PheGenIrs199473511
hapmaprs199473511
1000 genomesrs199473511
hgdprs199473511
ensemblrs199473511
gopubmedrs199473511
geneviewrs199473511
scholarrs199473511
googlers199473511
pharmgkbrs199473511
gwascentralrs199473511
openSNPrs199473511
23andMers199473511
23andMe allrs199473511
SNP Nexus

SNPshotrs199473511
SNPdbers199473511
MSV3drs199473511
GWAS Ctlgrs199473511
Max Magnitude0
ClinVar
Risk rs199473511(T;T)
Alt rs199473511(T;T)
Reference rs199473511(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150649674C>A
CLNSRC ClinVar
CLNACC RCV000057901.2,