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: rs61752102
rs61752102 		0.925 0.080 17 35577183 inframe deletion TGT/- delins 1.6E-05 2.1E-05
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 3 2004 2011