CNTNAP1, contactin associated protein 1, 8506

N. diseases: 166; N. variants: 16
Disease: Retinal depigmentation ×
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: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0151891
Disease: Retinal depigmentation
Retinal depigmentation 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017