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rs199473000

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473000(A;A)
Make rs199473000(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150949031
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473000
ebirs199473000
HLIrs199473000
Exacrs199473000
Varsomers199473000
Maprs199473000
PheGenIrs199473000
hapmaprs199473000
1000 genomesrs199473000
hgdprs199473000
ensemblrs199473000
gopubmedrs199473000
geneviewrs199473000
scholarrs199473000
googlers199473000
pharmgkbrs199473000
gwascentralrs199473000
openSNPrs199473000
23andMers199473000
23andMe allrs199473000
SNP Nexus

SNPshotrs199473000
SNPdbers199473000
MSV3drs199473000
GWAS Ctlgrs199473000
Max Magnitude0
ClinVar
Risk rs199473000(A,C;A,C)
Alt rs199473000(A,C;A,C)
Reference rs199473000(G;G)
Significance Pathogenic
Disease not provided Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN not provided Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150646119C>G; NC_000007.13:g.150646119C>T
CLNSRC ClinVar
CLNACC RCV000181864.2, RCV000058120.2, RCV000181863.2,