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rs199472679

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472679(A;G)
Make rs199472679(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2445442
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472679
ebirs199472679
HLIrs199472679
Exacrs199472679
Varsomers199472679
Maprs199472679
PheGenIrs199472679
hapmaprs199472679
1000 genomesrs199472679
hgdprs199472679
ensemblrs199472679
gopubmedrs199472679
geneviewrs199472679
scholarrs199472679
googlers199472679
pharmgkbrs199472679
gwascentralrs199472679
openSNPrs199472679
23andMers199472679
23andMe allrs199472679
SNP Nexus

SNPshotrs199472679
SNPdbers199472679
MSV3drs199472679
GWAS Ctlgrs199472679
Max Magnitude0
ClinVar
Risk rs199472679(G;G)
Alt rs199472679(G;G)
Reference rs199472679(A;A)
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.2466672A>G
CLNSRC ClinVar
CLNACC RCV000046050.2, RCV000057661.2,