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rs199472748

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472748(A;A)
Make rs199472748(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2583454
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472748
ebirs199472748
HLIrs199472748
Exacrs199472748
Varsomers199472748
Maprs199472748
PheGenIrs199472748
hapmaprs199472748
1000 genomesrs199472748
hgdprs199472748
ensemblrs199472748
gopubmedrs199472748
geneviewrs199472748
scholarrs199472748
googlers199472748
pharmgkbrs199472748
gwascentralrs199472748
openSNPrs199472748
23andMers199472748
23andMe allrs199472748
SNP Nexus

SNPshotrs199472748
SNPdbers199472748
MSV3drs199472748
GWAS Ctlgrs199472748
Max Magnitude0
ClinVar
Risk rs199472748(A,C;A,C)
Alt rs199472748(A,C;A,C)
Reference rs199472748(G;G)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2604684G>A; NC_000011.9:g.2604684G>C
CLNSRC ClinVar
CLNACC RCV000046170.2, RCV000057813.2, RCV000057814.2,