Source: ALL
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
17 0.807 0.200 1 216073096 splice donor variant C/T snv 1.2E-05 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.807 0.200 1 216073096 splice donor variant C/T snv 1.2E-05 0.700 0
Nyctalopia
CUI: C0028077
Disease: Nyctalopia
18 0.807 0.200 1 216073096 splice donor variant C/T snv 1.2E-05 0.700 0
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.807 0.200 1 216073096 splice donor variant C/T snv 1.2E-05 0.700 0
Usher syndrome type 2
CUI: C0339534
Disease: Usher syndrome type 2
16 0.807 0.200 1 216073096 splice donor variant C/T snv 1.2E-05 0.700 0
USHER SYNDROME, TYPE IIA
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
314 0.807 0.200 1 216073096 splice donor variant C/T snv 1.2E-05 0.700 0