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rs199473449

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473449(A;A)
Make rs199473449(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2527938
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473449
ebirs199473449
HLIrs199473449
Exacrs199473449
Varsomers199473449
Maprs199473449
PheGenIrs199473449
hapmaprs199473449
1000 genomesrs199473449
hgdprs199473449
ensemblrs199473449
gopubmedrs199473449
geneviewrs199473449
scholarrs199473449
googlers199473449
pharmgkbrs199473449
gwascentralrs199473449
openSNPrs199473449
23andMers199473449
23andMe allrs199473449
SNP Nexus

SNPshotrs199473449
SNPdbers199473449
MSV3drs199473449
GWAS Ctlgrs199473449
Max Magnitude0
ClinVar
Risk rs199473449(A;A)
Alt rs199473449(A;A)
Reference rs199473449(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.2549168G>A
CLNSRC ClinVar
CLNACC RCV000057668.2,