Source: CLINVAR ×
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.
Usher Syndrome, Type III
CUI: C1568248
Disease: Usher Syndrome, Type III
23 0.851 0.200 3 150972565 missense variant A/C snv 2.7E-04 1.5E-04 0.820 1.000 9 2001 2016
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
420 0.851 0.200 3 150972565 missense variant A/C snv 2.7E-04 1.5E-04 0.700 1.000 1 2002 2002
Mild hearing impairment
CUI: C4022758
Disease: Mild hearing impairment
4 0.851 0.200 3 150972565 missense variant A/C snv 2.7E-04 1.5E-04 0.700 0
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.851 0.200 3 150972565 missense variant A/C snv 2.7E-04 1.5E-04 0.700 0