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: rs137853096
rs137853096
1.000 0.280 5 119452621 missense variant G/A;C snv 2.0E-04
Bifunctional peroxisomal enzyme deficiency
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 12 1998 2017
dbSNP: rs137853097
rs137853097
1.000 0.280 5 119509176 missense variant A/G;T snv 4.0E-06; 1.6E-05
Bifunctional peroxisomal enzyme deficiency
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 12 1998 2015
dbSNP: rs387906825
rs387906825
1.000 0.280 5 119489219 missense variant A/G;T snv
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2010 2010
dbSNP: rs25640
rs25640
5 119475838 missense variant G/A;C snv 0.45
Bifunctional peroxisomal enzyme deficiency
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.800 0
dbSNP: rs137853096
rs137853096
1.000 0.280 5 119452621 missense variant G/A;C snv 2.0E-04
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 5 1998 2017
dbSNP: rs137853097
rs137853097
1.000 0.280 5 119509176 missense variant A/G;T snv 4.0E-06; 1.6E-05
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 5 1999 2015
dbSNP: rs587777443
rs587777443
1.000 0.280 5 119525259 missense variant T/C snv 7.0E-06
Bifunctional peroxisomal enzyme deficiency
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 4 2006 2014
dbSNP: rs766199971
rs766199971
1.000 0.280 5 119525228 missense variant C/T snv 7.0E-06
Bifunctional peroxisomal enzyme deficiency
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2006 2015
dbSNP: rs773305477
rs773305477
5 119477461 missense variant C/T snv 2.8E-05 2.1E-05
Bifunctional peroxisomal enzyme deficiency
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2006 2017
dbSNP: rs969485098
rs969485098
1.000 0.280 5 119493820 missense variant C/T snv 8.0E-06
Bifunctional peroxisomal enzyme deficiency
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2006 2013
dbSNP: rs1057516672
rs1057516672
5 119475719 frameshift variant -/A delins
Bifunctional peroxisomal enzyme deficiency
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1085307072
rs1085307072
1.000 0.280 5 119452578 start lost G/A snv
Bifunctional peroxisomal enzyme deficiency
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2000 2000
dbSNP: rs1085307072
rs1085307072
1.000 0.280 5 119452578 start lost G/A snv
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2000 2000
dbSNP: rs140543491
rs140543491
5 119587906 intron variant C/A;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2018 2018
dbSNP: rs1561457987
rs1561457987
5 119493864 frameshift variant C/- delins
Bifunctional peroxisomal enzyme deficiency
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2006 2006
dbSNP: rs751646311
rs751646311
1.000 0.280 5 119536458 stop gained C/T snv 4.0E-06
Bifunctional peroxisomal enzyme deficiency
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2006 2006
dbSNP: rs7726558
rs7726558
5 119576903 intron variant G/C snv 0.13
QT interval feature (observable entity)
0.700 1.000 1 2018 2018
dbSNP: rs1057516269
rs1057516269
5 119496546 stop gained C/G snv
Bifunctional peroxisomal enzyme deficiency
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057516273
rs1057516273
5 119514979 splice acceptor variant A/C snv 4.0E-06
Bifunctional peroxisomal enzyme deficiency
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057516310
rs1057516310
5 119479003 frameshift variant ACAG/- delins
Bifunctional peroxisomal enzyme deficiency
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057516312
rs1057516312
5 119531316 frameshift variant A/- delins
Bifunctional peroxisomal enzyme deficiency
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057516735
rs1057516735
5 119506824 stop gained T/G snv
Bifunctional peroxisomal enzyme deficiency
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057516750
rs1057516750
5 119489275 frameshift variant TTTG/- delins
Bifunctional peroxisomal enzyme deficiency
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057516859
rs1057516859
5 119514983 frameshift variant AG/- del
Bifunctional peroxisomal enzyme deficiency
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057516936
rs1057516936
5 119527167 frameshift variant CT/- delins
Bifunctional peroxisomal enzyme deficiency
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0