Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894021
rs104894021
KCNH2
CUI: C1865020
Disease: Short QT Syndrome 1
Short QT Syndrome 1 		T 0.800 CausalMutation CLINVAR

dbSNP: rs104894021
rs104894021
KCNH2
CUI: C1865020
Disease: Short QT Syndrome 1
Short QT Syndrome 1 		C 0.800 CausalMutation CLINVAR