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 |
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 |
rs387906825
|
1.000 |
0.280 |
5 |
119489219 |
missense variant |
A/G;T
|
snv
|
|
|
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 |
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 |
|
|
rs137853096
|
1.000 |
0.280 |
5 |
119452621 |
missense variant |
G/A;C
|
snv
|
2.0E-04
|
|
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 |
rs137853097
|
1.000 |
0.280 |
5 |
119509176 |
missense variant |
A/G;T
|
snv
|
4.0E-06;
1.6E-05
|
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs1085307072
|
1.000 |
0.280 |
5 |
119452578 |
start lost |
G/A
|
snv
|
|
|
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 |
rs140543491
|
|
|
5 |
119587906 |
intron variant |
C/A;T
|
snv
|
|
|
Systolic Pressure
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
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 |
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 |
rs7726558
|
|
|
5 |
119576903 |
intron variant |
G/C
|
snv
|
|
0.13
|
QT interval feature (observable entity)
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|