PEX12, peroxisomal biogenesis factor 12, 5193

N. diseases: 126; N. variants: 41
Disease: Peroxisome biogenesis 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: rs61752100
rs61752100 		0.925 0.080 17 35577447 frameshift variant CTTT/- delins 4.4E-05 2.1E-05
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1998 2011
dbSNP: rs61752107
rs61752107 		0.925 0.080 17 35576128 frameshift variant -/GGCA delins 1.6E-05 2.8E-05
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1998 2018
dbSNP: rs144259891
rs144259891 		0.925 0.080 17 35577895 splice donor variant C/A;T snv 2.4E-05; 4.0E-06
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1998 2011
dbSNP: rs187526749
rs187526749 		1.000 0.080 17 35576183 splice acceptor variant T/G snv 1.0E-04 5.0E-05
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2004 2011
dbSNP: rs61752106
rs61752106 		0.925 0.080 17 35577093 stop gained G/A;T snv 2.8E-05; 8.0E-06
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2004 2011
dbSNP: rs398123301
rs398123301 		0.925 0.080 17 35575973 frameshift variant AG/- delins
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2011 2015
dbSNP: rs1567730901
rs1567730901 		17 35577264 frameshift variant CGGGAAGAAG/- delins
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2011 2011