Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564886323
rs1564886323
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome
C 0.700 GeneticVariation CLINVAR The genetic basis of long QT and short QT syndromes: a mutation update. 19862833 2009
dbSNP: rs1564886323
rs1564886323
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome
C 0.700 GeneticVariation CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
dbSNP: rs1564886323
rs1564886323
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome
C 0.700 GeneticVariation CLINVAR Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. 9323054 1997