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rs199472800

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472800(A;A)
Make rs199472800(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2776033
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472800
ebirs199472800
HLIrs199472800
Exacrs199472800
Varsomers199472800
Maprs199472800
PheGenIrs199472800
hapmaprs199472800
1000 genomesrs199472800
hgdprs199472800
ensemblrs199472800
gopubmedrs199472800
geneviewrs199472800
scholarrs199472800
googlers199472800
pharmgkbrs199472800
gwascentralrs199472800
openSNPrs199472800
23andMers199472800
23andMe allrs199472800
SNP Nexus

SNPshotrs199472800
SNPdbers199472800
MSV3drs199472800
GWAS Ctlgrs199472800
Max Magnitude0
ClinVar
Risk rs199472800(A;A)
Alt rs199472800(A;A)
Reference rs199472800(G;G)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2797263G>A
CLNSRC ClinVar
CLNACC RCV000046012.2, RCV000057614.2, RCV000182212.2,