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rs199472690

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472690(G;G)
Make rs199472690(G;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2528011
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472690
ebirs199472690
HLIrs199472690
Exacrs199472690
Varsomers199472690
Maprs199472690
PheGenIrs199472690
hapmaprs199472690
1000 genomesrs199472690
hgdprs199472690
ensemblrs199472690
gopubmedrs199472690
geneviewrs199472690
scholarrs199472690
googlers199472690
pharmgkbrs199472690
gwascentralrs199472690
openSNPrs199472690
23andMers199472690
23andMe allrs199472690
SNP Nexus

SNPshotrs199472690
SNPdbers199472690
MSV3drs199472690
GWAS Ctlgrs199472690
Max Magnitude0
ClinVar
Risk rs199472690(G;G)
Alt rs199472690(G;G)
Reference rs199472690(T;T)
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.2549241T>G
CLNSRC ClinVar
CLNACC RCV000046060.2, RCV000057680.2,