rs1303044966, ABHD12

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.
Cataract
CUI: C0086543
Disease: Cataract
124 0.882 0.160 20 25339294 stop gained G/A;C snv 4.0E-06 0.700 0
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.882 0.160 20 25339294 stop gained G/A;C snv 4.0E-06 0.700 0
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
12 0.882 0.160 20 25339294 stop gained G/A;C snv 4.0E-06 0.700 0
Progressive hearing impairment
CUI: C1842138
Disease: Progressive hearing impairment
2 0.882 0.160 20 25339294 stop gained G/A;C snv 4.0E-06 0.700 0