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rs145974930

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs145974930(A;A)
Make rs145974930(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2768882
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs145974930
ebirs145974930
HLIrs145974930
Exacrs145974930
Varsomers145974930
Maprs145974930
PheGenIrs145974930
hapmaprs145974930
1000 genomesrs145974930
hgdprs145974930
ensemblrs145974930
gopubmedrs145974930
geneviewrs145974930
scholarrs145974930
googlers145974930
pharmgkbrs145974930
gwascentralrs145974930
openSNPrs145974930
23andMers145974930
23andMe allrs145974930
SNP Nexus

SNPshotrs145974930
SNPdbers145974930
MSV3drs145974930
GWAS Ctlgrs145974930
Max Magnitude0
ClinVar
Risk rs145974930(A,C;A,C)
Alt rs145974930(A,C;A,C)
Reference rs145974930(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome not provided Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome Long QT syndrome not provided Long QT syndrome, LQT1 subtype
Reversed 0
HGVS NC_000011.9:g.2790112G>A; NC_000011.9:g.2790112G>C
CLNSRC ClinVar University of Washington
CLNACC RCV000057593.2, RCV000148557.1, RCV000182197.2, RCV000045998.2, RCV000057594.2, RCV000182198.2,