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rs199472754

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472754(A;G)
Make rs199472754(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2583477
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472754
ebirs199472754
HLIrs199472754
Exacrs199472754
Varsomers199472754
Maprs199472754
PheGenIrs199472754
hapmaprs199472754
1000 genomesrs199472754
hgdprs199472754
ensemblrs199472754
gopubmedrs199472754
geneviewrs199472754
scholarrs199472754
googlers199472754
pharmgkbrs199472754
gwascentralrs199472754
openSNPrs199472754
23andMers199472754
23andMe allrs199472754
SNP Nexus

SNPshotrs199472754
SNPdbers199472754
MSV3drs199472754
GWAS Ctlgrs199472754
Max Magnitude0
ClinVar
Risk rs199472754(G;G)
Alt rs199472754(G;G)
Reference rs199472754(A;A)
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.2604707A>G
CLNSRC ClinVar
CLNACC RCV000046181.2, RCV000057829.2, RCV000182147.2,