SLC45A2, solute carrier family 45 member 2, 51151

N. diseases: 75; N. variants: 46
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: rs1351361600
rs1351361600 		1.000 0.160 5 33944733 missense variant G/A snv 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