EPDR1, ependymin related 1, 54749

N. diseases: 16; N. variants: 17
Disease: Dupuytren Contracture ×
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: rs16879765
rs16879765 		0.925 0.120 7 37949493 intron variant C/T snv 0.13
CUI: C0013312
Disease: Dupuytren Contracture
Dupuytren Contracture 		Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 2 2011 2017
dbSNP: rs2598107
rs2598107 		1.000 0.120 7 37933412 intron variant C/T snv 0.34
CUI: C0013312
Disease: Dupuytren Contracture
Dupuytren Contracture 		Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2017 2017