rs387907254
|
1.000 |
0.240 |
19 |
13025172 |
missense variant |
T/C
|
snv
|
|
|
Malan overgrowth syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
4 |
2010 |
2015 |
rs387907255
|
1.000 |
0.240 |
19 |
13025355 |
missense variant |
G/C
|
snv
|
|
|
Malan overgrowth syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
4 |
2010 |
2015 |
rs1568318932
|
0.925 |
0.240 |
19 |
13075673 |
splice donor variant |
T/C
|
snv
|
|
|
Malan overgrowth syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2010 |
2015 |
rs1568318932
|
0.925 |
0.240 |
19 |
13075673 |
splice donor variant |
T/C
|
snv
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2010 |
2015 |
rs10411958
|
|
|
19 |
13002827 |
intron variant |
T/A;C;G
|
snv
|
|
|
Intelligence
|
Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs10413329
|
|
|
19 |
13003620 |
intron variant |
A/C;G
|
snv
|
|
|
Intelligence
|
Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs11555274
|
|
|
19 |
13096470 |
3 prime UTR variant |
G/C
|
snv
|
|
7.6E-02
|
Intelligence
|
Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs117533700
|
|
|
19 |
13065914 |
intron variant |
C/G;T
|
snv
|
|
|
Monocyte count result
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs117533700
|
|
|
19 |
13065914 |
intron variant |
C/G;T
|
snv
|
|
|
Monocyte count procedure
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1568318540
|
1.000 |
0.120 |
19 |
13075547 |
frameshift variant |
C/-
|
delins
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs34720245
|
|
|
19 |
13050855 |
intron variant |
G/A
|
snv
|
|
2.9E-02
|
Finding of Mean Corpuscular Hemoglobin
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs34720245
|
|
|
19 |
13050855 |
intron variant |
G/A
|
snv
|
|
2.9E-02
|
Red Blood Cell Count measurement
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs4926172
|
|
|
19 |
12997808 |
intron variant |
T/C
|
snv
|
|
0.56
|
Intelligence
|
Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs4926298
|
1.000 |
0.040 |
19 |
13042221 |
intron variant |
G/A
|
snv
|
|
0.49
|
Bipolar Disorder
|
Mental Disorders
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs587779381
|
1.000 |
0.240 |
19 |
13073924 |
stop gained |
C/G
|
snv
|
|
|
Malan overgrowth syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs78269692
|
1.000 |
0.080 |
19 |
13047463 |
intron variant |
T/C
|
snv
|
|
3.2E-02
|
Breast Carcinoma
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs797045056
|
1.000 |
0.240 |
19 |
13025330 |
frameshift variant |
-/AGATC
|
delins
|
|
|
Malan overgrowth syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1135401802
|
1.000 |
0.240 |
19 |
13025066 |
frameshift variant |
G/-
|
del
|
|
|
Malan overgrowth syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555696597
|
1.000 |
0.240 |
19 |
13025330 |
missense variant |
A/G
|
snv
|
|
|
Malan overgrowth syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555696611
|
0.925 |
0.240 |
19 |
13025350 |
frameshift variant |
C/-
|
delins
|
|
|
Malan overgrowth syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555696611
|
0.925 |
0.240 |
19 |
13025350 |
frameshift variant |
C/-
|
delins
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555696625
|
0.851 |
0.360 |
19 |
13025409 |
missense variant |
G/A
|
snv
|
|
|
Laryngomalacia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555696625
|
0.851 |
0.360 |
19 |
13025409 |
missense variant |
G/A
|
snv
|
|
|
Agenesis of corpus callosum
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555696625
|
0.851 |
0.360 |
19 |
13025409 |
missense variant |
G/A
|
snv
|
|
|
Prominent forehead
|
|
0.700 |
|
0 |
|
|
rs1555696625
|
0.851 |
0.360 |
19 |
13025409 |
missense variant |
G/A
|
snv
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|