Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 1.000 20 1990 2014
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		0.700 0
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.700 0
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		0.700 0
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C0001916
Disease: Albinism
Albinism 		0.700 0
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C1849221
Disease: Fair hair
Fair hair 		0.700 0
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		0.700 0
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		0.700 0
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0