PEX1, peroxisomal biogenesis factor 1, 5189

N. diseases: 235; N. variants: 104
Disease: Peroxisomal Disorders ×
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: rs61750420
rs61750420 		0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0