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rs199473518

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473518(A;A)
Make rs199473518(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951700
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473518
ebirs199473518
HLIrs199473518
Exacrs199473518
Varsomers199473518
Maprs199473518
PheGenIrs199473518
hapmaprs199473518
1000 genomesrs199473518
hgdprs199473518
ensemblrs199473518
gopubmedrs199473518
geneviewrs199473518
scholarrs199473518
googlers199473518
pharmgkbrs199473518
gwascentralrs199473518
openSNPrs199473518
23andMers199473518
23andMe allrs199473518
SNP Nexus

SNPshotrs199473518
SNPdbers199473518
MSV3drs199473518
GWAS Ctlgrs199473518
Max Magnitude0
ClinVar
Risk rs199473518(A,C;A,C)
Alt rs199473518(A,C;A,C)
Reference rs199473518(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.150648788C>G; NC_000007.13:g.150648788C>T
CLNSRC ClinVar
CLNACC RCV000181810.2, RCV000057947.2,