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rs199472750

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472750(A;G)
Make rs199472750(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2583463
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472750
ebirs199472750
HLIrs199472750
Exacrs199472750
Varsomers199472750
Maprs199472750
PheGenIrs199472750
hapmaprs199472750
1000 genomesrs199472750
hgdprs199472750
ensemblrs199472750
gopubmedrs199472750
geneviewrs199472750
scholarrs199472750
googlers199472750
pharmgkbrs199472750
gwascentralrs199472750
openSNPrs199472750
23andMers199472750
23andMe allrs199472750
SNP Nexus

SNPshotrs199472750
SNPdbers199472750
MSV3drs199472750
GWAS Ctlgrs199472750
Max Magnitude0
ClinVar
Risk rs199472750(G;G)
Alt rs199472750(G;G)
Reference rs199472750(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2604693A>G
CLNSRC ClinVar
CLNACC RCV000057824.2,