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rs199472708

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472708(A;A)
Make rs199472708(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572015
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472708
ebirs199472708
HLIrs199472708
Exacrs199472708
Varsomers199472708
Maprs199472708
PheGenIrs199472708
hapmaprs199472708
1000 genomesrs199472708
hgdprs199472708
ensemblrs199472708
gopubmedrs199472708
geneviewrs199472708
scholarrs199472708
googlers199472708
pharmgkbrs199472708
gwascentralrs199472708
openSNPrs199472708
23andMers199472708
23andMe allrs199472708
SNP Nexus

SNPshotrs199472708
SNPdbers199472708
MSV3drs199472708
GWAS Ctlgrs199472708
Max Magnitude0
ClinVar
Risk rs199472708(A;A)
Alt rs199472708(A;A)
Reference rs199472708(G;G)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome Atrial fibrillation not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome Atrial fibrillation, familial, 3 not provided
Reversed 0
HGVS NC_000011.9:g.2593245G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000046105.2, RCV000057732.2, RCV000115009.2, RCV000182099.1,