rs2227928
|
0.851 |
0.200 |
3 |
142562770 |
missense variant |
A/G
|
snv
|
0.55
|
0.63
|
Breast Carcinoma
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs6805118
|
0.925 |
0.080 |
3 |
142498074 |
intron variant |
C/T
|
snv
|
|
6.9E-02
|
Breast Carcinoma
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs6805118
|
0.925 |
0.080 |
3 |
142498074 |
intron variant |
C/T
|
snv
|
|
6.9E-02
|
Malignant neoplasm of breast
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs1301785134
|
0.925 |
0.280 |
3 |
142556117 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Seckel syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs587776690
|
0.882 |
0.280 |
3 |
142556439 |
synonymous variant |
T/C
|
snv
|
|
|
Seckel syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs1481733213
|
0.851 |
0.240 |
3 |
142568059 |
splice region variant |
T/C
|
snv
|
|
|
Seckel syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1553760567
|
1.000 |
0.200 |
3 |
142505138 |
splice donor variant |
C/T
|
snv
|
|
|
Seckel syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1553761113
|
0.851 |
0.240 |
3 |
142507967 |
missense variant |
C/A
|
snv
|
|
|
Seckel syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs387907327
|
1.000 |
0.200 |
3 |
142497116 |
missense variant |
C/A
|
snv
|
4.0E-06
|
7.0E-06
|
Seckel syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587776690
|
0.882 |
0.280 |
3 |
142556439 |
synonymous variant |
T/C
|
snv
|
|
|
Seckel syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587777851
|
1.000 |
0.200 |
3 |
142541008 |
missense variant |
C/A
|
snv
|
|
|
Seckel syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587777852
|
1.000 |
0.200 |
3 |
142465860 |
non coding transcript exon variant |
G/C
|
snv
|
|
9.8E-05
|
Seckel syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs797045403
|
1.000 |
0.200 |
3 |
142513500 |
splice donor variant |
C/A
|
snv
|
|
|
Seckel syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1301785134
|
0.925 |
0.280 |
3 |
142556117 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Mental Retardation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs587776690
|
0.882 |
0.280 |
3 |
142556439 |
synonymous variant |
T/C
|
snv
|
|
|
Mental Retardation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs1301785134
|
0.925 |
0.280 |
3 |
142556117 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Intellectual Disability
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs587776690
|
0.882 |
0.280 |
3 |
142556439 |
synonymous variant |
T/C
|
snv
|
|
|
Intellectual Disability
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.010 |
1.000 |
1 |
2017 |
2017 |