Disease: SHORT QT SYNDROME 2 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074195
rs120074195
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1865019
Disease:
SHORT QT SYNDROME 2 (disorder) 		0.800 GeneticVariation UNIPROT Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. 15159330 2004
dbSNP: rs120074195
rs120074195
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1865019
Disease:
SHORT QT SYNDROME 2 (disorder) 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1057519584
rs1057519584
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1865019
Disease:
SHORT QT SYNDROME 2 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs120074193
rs120074193
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1865019
Disease:
SHORT QT SYNDROME 2 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs12720458
rs12720458
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1865019
Disease:
SHORT QT SYNDROME 2 (disorder) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs17221854
rs17221854
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1865019
Disease:
SHORT QT SYNDROME 2 (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs199472687
rs199472687
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1865019
Disease:
SHORT QT SYNDROME 2 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs199472709
rs199472709
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1865019
Disease:
SHORT QT SYNDROME 2 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs199472795
rs199472795
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1865019
Disease:
SHORT QT SYNDROME 2 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397508097
rs397508097
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1865019
Disease:
SHORT QT SYNDROME 2 (disorder) 		T 0.700 CausalMutation CLINVAR