rs770566897, KIAA0586

N. diseases: 4
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.
JOUBERT SYNDROME 23
CUI: C4084822
Disease: JOUBERT SYNDROME 23
21 0.882 0.120 14 58444072 frameshift variant AA/- del 2.8E-05 2.1E-05 0.700 1.000 1 2015 2015
Cerebellar Hypoplasia
CUI: C0266470
Disease: Cerebellar Hypoplasia
26 0.882 0.120 14 58444072 frameshift variant AA/- del 2.8E-05 2.1E-05 0.700 0
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.882 0.120 14 58444072 frameshift variant AA/- del 2.8E-05 2.1E-05 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.120 14 58444072 frameshift variant AA/- del 2.8E-05 2.1E-05 0.700 0