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.
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.851 0.160 16 1587209 missense variant C/T snv 2.0E-05 0.700 0
Mainzer-Saldino Disease
CUI: C1849437
Disease: Mainzer-Saldino Disease
20 0.851 0.160 16 1587209 missense variant C/T snv 2.0E-05 0.700 0
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.851 0.160 16 1587209 missense variant C/T snv 2.0E-05 0.700 0
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.851 0.160 16 1587209 missense variant C/T snv 2.0E-05 0.700 0
RETINITIS PIGMENTOSA 80
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
17 0.851 0.160 16 1587209 missense variant C/T snv 2.0E-05 0.700 0