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rs145229963

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs145229963(A;A)
Make rs145229963(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position2588816
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs145229963
dbSNP (classic)rs145229963
ClinGenrs145229963
ebirs145229963
HLIrs145229963
Exacrs145229963
Gnomadrs145229963
Varsomers145229963
LitVarrs145229963
Maprs145229963
PheGenIrs145229963
Biobankrs145229963
1000 genomesrs145229963
hgdprs145229963
ensemblrs145229963
geneviewrs145229963
scholarrs145229963
googlers145229963
pharmgkbrs145229963
gwascentralrs145229963
openSNPrs145229963
23andMers145229963
SNPshotrs145229963
SNPdbers145229963
MSV3drs145229963
GWAS Ctlgrs145229963
Max Magnitude0
ClinVar
Risk rs145229963(A;A) rs145229963(T;T)
Alt rs145229963(A;A) rs145229963(T;T)
Reference Rs145229963(G;G)
Significance Pathogenic
Disease not provided not specified Cardiovascular phenotype Romano-Ward syndrome Long QT syndrome Familial atrial fibrillation Jervell and Lange-Nielsen syndrome Short QT syndrome
Variation info
Gene KCNQ1
CLNDBN not provided not specified Cardiovascular phenotype Romano-Ward syndrome Long QT syndrome Familial atrial fibrillation Jervell and Lange-Nielsen syndrome short QT syndrome
Reversed 0
HGVS NC_000011.9:g.2610046G>A; NC_000011.9:g.2610046G>T
CLNSRC
CLNACC RCV000057583.3, RCV000182189.3, RCV000246256.1, RCV000284895.1, RCV000297971.1, RCV000337547.1, RCV000355198.1, RCV000398200.1, RCV000182318.1,