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rs199472794

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472794(A;A)
Make rs199472794(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2775985
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472794
dbSNP (classic)rs199472794
ClinGenrs199472794
ebirs199472794
HLIrs199472794
Exacrs199472794
Gnomadrs199472794
Varsomers199472794
LitVarrs199472794
Maprs199472794
PheGenIrs199472794
Biobankrs199472794
1000 genomesrs199472794
hgdprs199472794
ensemblrs199472794
geneviewrs199472794
scholarrs199472794
googlers199472794
pharmgkbrs199472794
gwascentralrs199472794
openSNPrs199472794
23andMers199472794
SNPshotrs199472794
SNPdbers199472794
MSV3drs199472794
GWAS Ctlgrs199472794
Max Magnitude0
ClinVar
Risk rs199472794(A;A)
Alt rs199472794(A;A)
Reference Rs199472794(G;G)
Significance Untested
Disease Congenital long QT syndrome not specified
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome not specified
Reversed 0
HGVS NC_000011.9:g.2797215G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000057605.3, RCV000182207.2,