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rs199473473

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473473(A;A)
Make rs199473473(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2587594
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473473
ebirs199473473
HLIrs199473473
Exacrs199473473
Varsomers199473473
Maprs199473473
PheGenIrs199473473
hapmaprs199473473
1000 genomesrs199473473
hgdprs199473473
ensemblrs199473473
gopubmedrs199473473
geneviewrs199473473
scholarrs199473473
googlers199473473
pharmgkbrs199473473
gwascentralrs199473473
openSNPrs199473473
23andMers199473473
23andMe allrs199473473
SNP Nexus

SNPshotrs199473473
SNPdbers199473473
MSV3drs199473473
GWAS Ctlgrs199473473
Max Magnitude0
ClinVar
Risk rs199473473(A;A)
Alt rs199473473(A;A)
Reference rs199473473(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2608824G>A
CLNSRC ClinVar
CLNACC RCV000057564.2,