rs1554919471, KCNQ1

N. diseases: 4
Disease: Jervell And Lange-Nielsen Syndrome 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Jervell And Lange-Nielsen Syndrome 1
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
0.700 CausalMutation CLINVAR Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome. 29372044 2018