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

rs74462309

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs74462309(A;G)
Make rs74462309(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2583457
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs74462309
dbSNP (classic)rs74462309
ClinGenrs74462309
ebirs74462309
HLIrs74462309
Exacrs74462309
Gnomadrs74462309
Varsomers74462309
LitVarrs74462309
Maprs74462309
PheGenIrs74462309
Biobankrs74462309
1000 genomesrs74462309
hgdprs74462309
ensemblrs74462309
geneviewrs74462309
scholarrs74462309
googlers74462309
pharmgkbrs74462309
gwascentralrs74462309
openSNPrs74462309
23andMers74462309
SNPshotrs74462309
SNPdbers74462309
MSV3drs74462309
GWAS Ctlgrs74462309
Max Magnitude0
ClinVar
Risk rs74462309(C;C) rs74462309(G;G) rs74462309(T;T)
Alt rs74462309(C;C) rs74462309(G;G) rs74462309(T;T)
Reference Rs74462309(A;A)
Significance Other
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.2604687A>C; NC_000011.9:g.2604687A>G; NC_000011.9:g.2604687A>T
CLNSRC UniProtKB (protein)
CLNACC RCV000046171.2, RCV000057815.3, RCV000046172.2, RCV000057816.3, RCV000182138.3, RCV000046173.2, RCV000057817.3,