Have questions? Visit https://www.reddit.com/r/SNPedia

rs199472814

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472814(A;A)
Make rs199472814(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2778015
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472814
ebirs199472814
HLIrs199472814
Exacrs199472814
Varsomers199472814
Maprs199472814
PheGenIrs199472814
hapmaprs199472814
1000 genomesrs199472814
hgdprs199472814
ensemblrs199472814
gopubmedrs199472814
geneviewrs199472814
scholarrs199472814
googlers199472814
pharmgkbrs199472814
gwascentralrs199472814
openSNPrs199472814
23andMers199472814
23andMe allrs199472814
SNP Nexus

SNPshotrs199472814
SNPdbers199472814
MSV3drs199472814
GWAS Ctlgrs199472814
Max Magnitude0
ClinVar
Risk rs199472814(A,T;A,T)
Alt rs199472814(A,T;A,T)
Reference rs199472814(G;G)
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.2799245G>A; NC_000011.9:g.2799245G>T
CLNSRC ClinVar
CLNACC RCV000046029.2, RCV000057636.2, RCV000182226.2,