rs398123022
|
1.000 |
0.280 |
12 |
109489917 |
splice acceptor variant |
A/G
|
snv
|
|
|
Kaufman oculocerebrofacial syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs398123021
|
1.000 |
0.280 |
12 |
109521290 |
frameshift variant |
AG/-
|
delins
|
|
|
Kaufman oculocerebrofacial syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1304422857
|
1.000 |
|
12 |
109511304 |
splice donor variant |
G/A;T
|
snv
|
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2003 |
2018 |
rs1304422857
|
1.000 |
|
12 |
109511304 |
splice donor variant |
G/A;T
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
8 |
2003 |
2018 |
rs1304422857
|
1.000 |
|
12 |
109511304 |
splice donor variant |
G/A;T
|
snv
|
|
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
8 |
2003 |
2018 |
rs1555269815
|
1.000 |
0.280 |
12 |
109524504 |
splice donor variant |
G/A
|
snv
|
|
|
Kaufman oculocerebrofacial syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs398123020
|
1.000 |
0.280 |
12 |
109509716 |
splice donor variant |
T/C
|
snv
|
|
|
Kaufman oculocerebrofacial syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs398123023
|
1.000 |
0.280 |
12 |
109521251 |
missense variant |
A/C
|
snv
|
|
|
Kaufman oculocerebrofacial syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
1 |
2012 |
2012 |
rs539407162
|
1.000 |
0.280 |
12 |
109533533 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Kaufman oculocerebrofacial syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs2241208
|
|
|
12 |
109524990 |
intron variant |
G/C
|
snv
|
|
0.57
|
High density lipoprotein measurement
|
|
0.700 |
1.000 |
3 |
2015 |
2019 |
rs10744826
|
|
|
12 |
109527707 |
intron variant |
C/G
|
snv
|
|
0.57
|
High density lipoprotein measurement
|
|
0.700 |
1.000 |
2 |
2018 |
2019 |
rs2241210
|
|
|
12 |
109512339 |
intron variant |
A/G
|
snv
|
|
0.57
|
High density lipoprotein measurement
|
|
0.700 |
1.000 |
2 |
2017 |
2019 |
rs10744826
|
|
|
12 |
109527707 |
intron variant |
C/G
|
snv
|
|
0.57
|
Alcohol consumption
|
Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs10744826
|
|
|
12 |
109527707 |
intron variant |
C/G
|
snv
|
|
0.57
|
Serum total cholesterol measurement
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1078424
|
|
|
12 |
109532300 |
intron variant |
G/A
|
snv
|
|
9.1E-03
|
Triglycerides measurement
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs2241208
|
|
|
12 |
109524990 |
intron variant |
G/C
|
snv
|
|
0.57
|
Serum total cholesterol measurement
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs2241212
|
|
|
12 |
109501836 |
intron variant |
T/A
|
snv
|
|
0.57
|
Serum total cholesterol measurement
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |