Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473451
rs199473451
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome
G 0.700 GeneticVariation CLINVAR Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases. 17224687 2007
dbSNP: rs199473451
rs199473451
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome
G 0.700 GeneticVariation CLINVAR Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. 17470695 2007
dbSNP: rs199473451
rs199473451
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome
G 0.700 GeneticVariation CLINVAR Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. 14678125 2003