CPN1, carboxypeptidase N subunit 1, 1369

N. diseases: 31; N. variants: 8
Disease: Adult type dermatomyositis ×
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: rs3750716
rs3750716 		0.925 0.120 10 100057106 synonymous variant C/G;T snv 6.6E-03
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016