Disease: 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: rs748527966
rs748527966 		1.000 0.160 3 69965154 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0001916
Disease: Albinism
Albinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017