PEX10, peroxisomal biogenesis factor 10, 5192

N. diseases: 141; N. variants: 27
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: rs1553231820
rs1553231820 		0.925 0.080 1 2406735 frameshift variant C/- delins
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2000 2000
dbSNP: rs61752093
rs61752093 		0.882 0.080 1 2406581 frameshift variant AG/- del 6.3E-05
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2003 2003
dbSNP: rs61752095
rs61752095 		1.000 0.080 1 2406526 missense variant G/C snv
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 1998 1998
dbSNP: rs886041314
rs886041314 		0.925 0.080 1 2412502 start lost T/C snv 2.1E-05
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs886041314
rs886041314 		0.925 0.080 1 2412502 start lost T/C snv 2.1E-05
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1335685844
rs1335685844 		0.925 0.080 1 2406718 splice donor variant A/G;T snv 7.0E-06
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1335685844
rs1335685844 		0.925 0.080 1 2406718 splice donor variant A/G;T snv 7.0E-06
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553231739
rs1553231739 		0.925 0.080 1 2406483 splice donor variant C/G;T snv
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553231739
rs1553231739 		0.925 0.080 1 2406483 splice donor variant C/G;T snv
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553231875
rs1553231875 		0.925 0.080 1 2406918 frameshift variant TC/- delins
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553231875
rs1553231875 		0.925 0.080 1 2406918 frameshift variant TC/- delins
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553231888
rs1553231888 		0.925 0.080 1 2406920 frameshift variant CA/GAG delins
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553231888
rs1553231888 		0.925 0.080 1 2406920 frameshift variant CA/GAG delins
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553231896
rs1553231896 		0.925 0.080 1 2406932 frameshift variant AG/- delins
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553231896
rs1553231896 		0.925 0.080 1 2406932 frameshift variant AG/- delins
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553232077
rs1553232077 		0.925 0.080 1 2408451 splice donor variant C/- del
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553232077
rs1553232077 		0.925 0.080 1 2408451 splice donor variant C/- del
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553232917
rs1553232917 		0.925 0.080 1 2412477 frameshift variant G/-;GG delins
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553232917
rs1553232917 		0.925 0.080 1 2412477 frameshift variant G/-;GG delins
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553232926
rs1553232926 		0.925 0.080 1 2412483 frameshift variant C/- del
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553232926
rs1553232926 		0.925 0.080 1 2412483 frameshift variant C/- del
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs267608183
rs267608183 		0.882 0.080 1 2408451 splice donor variant C/T snv 2.4E-05 2.1E-05
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs724159999
rs724159999 		1.000 0.080 1 2408715 frameshift variant G/- delins
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs768893724
rs768893724 		0.925 0.080 1 2406793 stop gained GCAGCCCCATGG/- del 4.1E-06
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs768893724
rs768893724 		0.925 0.080 1 2406793 stop gained GCAGCCCCATGG/- del 4.1E-06
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0