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: rs61752119
rs61752119
1.000 0.080 8 76984016 missense variant C/T snv
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 1999 1999
dbSNP: rs61752124
rs61752124
0.925 0.080 8 76983806 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1998 2011
dbSNP: rs61752123
rs61752123
0.925 0.080 8 76983824 stop gained G/A;C snv 1.4E-04; 4.0E-06
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1992 2004
dbSNP: rs267608188
rs267608188
0.925 0.080 8 76983341 frameshift variant AAGTA/- delins
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2006 2006
dbSNP: rs764771123
rs764771123
0.925 0.080 8 76983834 frameshift variant TGCCACC/- delins 3.2E-05 7.0E-06
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1554584474
rs1554584474
0.925 0.080 8 76983676 frameshift variant CT/- delins
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554584487
rs1554584487
0.925 0.080 8 76983707 frameshift variant G/- delins
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554584505
rs1554584505
0.925 0.080 8 76983824 frameshift variant GT/- del
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs200065382
rs200065382
0.925 0.080 8 76983875 stop gained G/A;T snv 1.5E-04 3.0E-04
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs61752127
rs61752127
1.000 0.080 8 76983510 stop gained C/T snv
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs724160029
rs724160029
1.000 0.080 8 76983313 frameshift variant -/T delins 4.0E-06
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0