PEX6, peroxisomal biogenesis factor 6, 5190

N. diseases: 232; N. variants: 58
Disease: PEROXISOME BIOGENESIS DISORDER 4B ×
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: rs267608229
rs267608229 		0.925 0.080 6 42966658 splice acceptor variant C/T snv 2.1E-05
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1996 2015
dbSNP: rs267608240
rs267608240 		0.925 0.080 6 42966044 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2001 2016
dbSNP: rs34324426
rs34324426 		0.882 0.080 6 42967450 missense variant C/T snv 2.7E-03 2.9E-03
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2009 2015
dbSNP: rs61753219
rs61753219 		0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2004 2013
dbSNP: rs61753229
rs61753229 		0.882 0.240 6 42965717 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1999 2015
dbSNP: rs267608216
rs267608216 		0.882 0.080 6 42969714 frameshift variant CCAGGCCT/- delins 8.0E-05 2.1E-05
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2009 2010
dbSNP: rs267608227
rs267608227 		1.000 0.080 6 42966796 frameshift variant C/- delins 2.0E-05 3.5E-05
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2009 2010
dbSNP: rs61753212
rs61753212 		0.925 0.080 6 42978634 frameshift variant T/- del 1.0E-05 7.0E-06
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2004 2010
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1491384052
rs1491384052 		0.925 0.080 6 42978640 frameshift variant -/A delins
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1996 1996
dbSNP: rs267608241
rs267608241 		0.882 0.080 6 42965712 stop gained G/A snv 2.0E-05; 4.0E-06
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs61753209
rs61753209 		0.925 0.080 6 42978840 frameshift variant C/- delins 1.8E-05 2.1E-05
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs63749004
rs63749004 		0.925 0.080 6 42978336 frameshift variant CCAGTCCGTCAGCG/- delins 1.2E-05
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs863225083
rs863225083 		0.882 0.080 6 42967411 frameshift variant A/- del 4.0E-06 7.0E-06
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1356280167
rs1356280167 		0.925 0.080 6 42979018 stop gained C/A;T snv 8.1E-06
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1416001981
rs1416001981 		0.925 0.080 6 42974001 splice donor variant A/G snv 4.0E-06 7.0E-06
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1443107232
rs1443107232 		0.925 0.080 6 42966043 splice donor variant C/T snv 4.0E-06 7.0E-06
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554126798
rs1554126798 		0.925 0.080 6 42964904 frameshift variant G/- delins
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554126955
rs1554126955 		0.925 0.080 6 42965713 frameshift variant C/-;CC delins
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554127383
rs1554127383 		0.925 0.080 6 42968872 splice donor variant A/- del
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554127415
rs1554127415 		0.925 0.080 6 42968987 splice acceptor variant T/- del
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554127533
rs1554127533 		0.925 0.080 6 42969802 splice acceptor variant C/A snv
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554127968
rs1554127968 		0.925 0.080 6 42974874 splice donor variant C/T snv
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554128347
rs1554128347 		1.000 0.080 6 42978267 splice region variant TGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACC/- delins
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554128461
rs1554128461 		0.925 0.080 6 42978644 frameshift variant CT/- delins
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0