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 |
rs140543491
|
|
|
5 |
119587906 |
intron variant |
C/A;T
|
snv
|
|
|
Systolic Pressure
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1554059509
|
|
|
5 |
119452630 |
splice donor variant |
CAGGTG/-
|
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 |
|
|
rs1554062168
|
|
|
5 |
119474400 |
splice acceptor variant |
G/C
|
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 |
|
|
rs1554062343
|
|
|
5 |
119475704 |
splice acceptor variant |
A/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 |
|
|
rs1554064083
|
|
|
5 |
119489191 |
splice acceptor variant |
G/A;T
|
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 |
|
|
rs1554065254
|
|
|
5 |
119499315 |
splice donor variant |
CTGGAGCTATTGGCCAGAAACTCCCTCCATTTTCTTATGCTTATACGGAACTGGAAGCTATTATGTATGCCCTTGGAGTGGGAGCGTCAATCAAGGATCCAAAAGATTTGAAATTTATTTATGAAGGAAGTTCTGATTTCTCCTGTTTGCCCACCTTCGGAGTTATCATAGGTCAGAAATCTATGATGGGTGGAGGATTAGCAGAAATTCCTGGACTTTCAATCAACTTTGCAAAGG/-
|
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 |
|
|
rs1554065670
|
|
|
5 |
119502039 |
splice donor variant |
TCTTCATGGAGAGCAGTACTTAGAGTTATATAAACCACTTCCCAGAGCAGGT/-
|
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 |
|
|
rs1554065671
|
|
|
5 |
119502040 |
splice acceptor variant |
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 |
|
0 |
|
|
rs1554066421
|
|
|
5 |
119509139 |
splice acceptor variant |
A/T
|
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 |
|
|
rs1554068134
|
|
|
5 |
119525214 |
splice acceptor variant |
A/C
|
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 |
|
|
rs1554068426
|
|
|
5 |
119527199 |
frameshift variant |
GA/-
|
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 |
|
|
rs1554068960
|
|
|
5 |
119531406 |
splice donor variant |
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 |
|
|
rs1554069592
|
|
|
5 |
119536421 |
splice acceptor variant |
A/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 |
|
|
rs1554069610
|
|
|
5 |
119536551 |
splice donor variant |
G/C
|
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 |
|
|
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 |
rs1561485663
|
1.000 |
0.280 |
5 |
119525918 |
frameshift variant |
T/-
|
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 |
|
|
rs1561485663
|
1.000 |
0.280 |
5 |
119525918 |
frameshift variant |
T/-
|
delins
|
|
|
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 |
|
0 |
|
|
rs25640
|
|
|
5 |
119475838 |
missense variant |
G/A;C
|
snv
|
0.45
|
|
Hammer Toe
|
Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |
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 |
|
|
rs28943592
|
0.925 |
0.080 |
5 |
119536489 |
missense variant |
C/T
|
snv
|
7.0E-03
|
2.8E-03
|
Ovarian Failure, Premature
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs28943592
|
0.925 |
0.080 |
5 |
119536489 |
missense variant |
C/T
|
snv
|
7.0E-03
|
2.8E-03
|
Premature Menopause
|
Female Urogenital Diseases and Pregnancy Complications
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs374161061
|
1.000 |
0.280 |
5 |
119499543 |
missense variant |
A/G
|
snv
|
1.2E-04
|
2.1E-05
|
Gonadal dysgenesis XX type deafness
|
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
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs374161061
|
1.000 |
0.280 |
5 |
119499543 |
missense variant |
A/G
|
snv
|
1.2E-04
|
2.1E-05
|
neurological disability
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
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 |