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rs199473451

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473451(A;G)
Make rs199473451(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2527971
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473451
ebirs199473451
HLIrs199473451
Exacrs199473451
Varsomers199473451
Maprs199473451
PheGenIrs199473451
hapmaprs199473451
1000 genomesrs199473451
hgdprs199473451
ensemblrs199473451
gopubmedrs199473451
geneviewrs199473451
scholarrs199473451
googlers199473451
pharmgkbrs199473451
gwascentralrs199473451
openSNPrs199473451
23andMers199473451
23andMe allrs199473451
SNP Nexus

SNPshotrs199473451
SNPdbers199473451
MSV3drs199473451
GWAS Ctlgrs199473451
Max Magnitude0
ClinVar
Risk rs199473451(G;G)
Alt rs199473451(G;G)
Reference rs199473451(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2549201A>G
CLNSRC ClinVar
CLNACC RCV000057675.2,