rs727502810, RIC3;TUB

N. diseases: 8
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.
Cataract
CUI: C0086543
Disease: Cataract
124 0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 0.700 0
Melanocortin 4 Receptor Deficiency
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
28 0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 0.700 0
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 0.700 0
Optic Neuropathy
CUI: C3887709
Disease: Optic Neuropathy
8 0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 0.700 0
Progressive sensorineural hearing impairment
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
28 0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 0.700 0
RETINAL DYSTROPHY AND OBESITY
CUI: C4015424
Disease: RETINAL DYSTROPHY AND OBESITY
1 0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 0.700 0