OCA2, OCA2 melanosomal transmembrane protein, 4948

N. diseases: 141; N. variants: 91
Disease: Brown oculocutaneous albinism ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555375711
rs1555375711 		0.925 0.160 15 28018397 splice acceptor variant GCTGTGGCCGCCGCCACCTGGAGCCCAAAGCGTCAGCCTGGGTCAGCTCCACCACGATGTGCTCTTCCCTCCCAGGACGACTCGGCCCACTGGCCACTAGGGCCCCTGCCAGGTCCACCTGCAGCAGCGTGGAGTCCACGTGGCTGCTAAGGTTCACGGCT/- delins
CUI: C0268497
Disease: Brown oculocutaneous albinism
Brown oculocutaneous albinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0