rs1554919471, KCNQ1

N. diseases: 4
Source: CURATED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Congenital sensorineural hearing loss
CUI: C1865866
Disease: Congenital sensorineural hearing loss
16 0.925 0.200 11 2768861 frameshift variant G/- delins 0.700 1.000 1 2018 2018
Jervell And Lange-Nielsen Syndrome 1
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
23 0.925 0.200 11 2768861 frameshift variant G/- delins 0.700 1.000 1 2018 2018
Prolonged QT interval
CUI: C0151878
Disease: Prolonged QT interval
12 0.925 0.200 11 2768861 frameshift variant G/- delins 0.700 1.000 1 2018 2018
Syncope
CUI: C0039070
Disease: Syncope
12 0.925 0.200 11 2768861 frameshift variant G/- delins 0.700 1.000 1 2018 2018