PEPD, peptidase D, 5184

N. diseases: 113; N. variants: 36
Disease: Deficiency of prolidase ×
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: rs745834191
rs745834191 		1.000 0.040 19 33413621 inframe deletion TAG/- delins 1.6E-04 1.3E-04
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 2 2004 2013