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.
Oculocutaneous albinism type 1A
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
101 0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05 0.800 1.000 20 1990 2014
Abnormal retinal morphology
CUI: C0035300
Disease: Abnormal retinal morphology
8 0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05 0.700 0
Abnormality of the optic nerve
CUI: C0029131
Disease: Abnormality of the optic nerve
11 0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05 0.700 0
Albinism
CUI: C0001916
Disease: Albinism
27 0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05 0.700 0
Albinism, Ocular
CUI: C0078917
Disease: Albinism, Ocular
10 0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05 0.700 0
Fair hair
CUI: C1849221
Disease: Fair hair
5 0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05 0.700 0
Horizontal Nystagmus
CUI: C0271385
Disease: Horizontal Nystagmus
11 0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05 0.700 0
Hypopigmentation disorder
CUI: C0162835
Disease: Hypopigmentation disorder
15 0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05 0.700 0