PEX12, peroxisomal biogenesis factor 12, 5193

N. diseases: 126; N. variants: 41
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) ×
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: rs776731688
rs776731688 		0.925 0.080 17 35577384 stop gained G/A snv 4.0E-06
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016