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: rs61752100
rs61752100 		0.925 0.080 17 35577447 frameshift variant CTTT/- delins 4.4E-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 2 1998 2011
dbSNP: rs61752103
rs61752103 		0.882 0.080 17 35577180 stop gained G/A;C snv 3.6E-05; 8.0E-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 2 1998 2011
dbSNP: rs61752108
rs61752108 		0.925 0.080 17 35576117 frameshift variant -/A delins 1.6E-05; 8.0E-06 7.0E-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 2 1998 2011
dbSNP: rs398123302
rs398123302 		0.925 0.080 17 35575968 frameshift variant G/- delins
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 5 1999 2017
dbSNP: rs749650201
rs749650201 		0.925 0.080 17 35575898 frameshift variant CCAG/- delins 8.0E-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 4 1999 2012
dbSNP: rs941358133
rs941358133 		0.925 0.080 17 35575884 stop gained G/T 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 4 1999 2012
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
dbSNP: rs267608184
rs267608184 		0.925 0.080 17 35575813 inframe deletion TGT/- delins 7.0E-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 2 2004 2011
dbSNP: rs61752106
rs61752106 		0.925 0.080 17 35577093 stop gained G/A;T snv 2.8E-05; 8.0E-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 2 2004 2011
dbSNP: rs187526749
rs187526749 		1.000 0.080 17 35576183 splice acceptor variant T/G snv 1.0E-04 5.0E-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 1 2009 2009
dbSNP: rs1555549855
rs1555549855 		0.925 0.080 17 35577258 stop gained G/A snv
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 2011 2011
dbSNP: rs61752105
rs61752105 		0.925 0.080 17 35577114 stop gained G/A snv 1.2E-05 7.0E-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 2011 2011
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