rs768749064
|
1.000 |
0.080 |
8 |
144513569 |
splice donor variant |
A/C;G
|
snv
|
4.1E-06
|
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2003 |
2003 |
rs771538008
|
1.000 |
0.080 |
8 |
144512307 |
frameshift variant |
CT/-
|
del
|
4.0E-05
|
3.5E-05
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2009 |
2016 |
rs786200889
|
1.000 |
0.080 |
8 |
144512326 |
splice acceptor variant |
T/G
|
snv
|
|
7.0E-06
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2003 |
2003 |
rs1054186954
|
1.000 |
0.080 |
8 |
144513012 |
stop gained |
G/A;T
|
snv
|
2.2E-05
|
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1356876749
|
1.000 |
0.080 |
8 |
144512027 |
frameshift variant |
C/-
|
delins
|
|
7.0E-06
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs1457411812
|
1.000 |
0.080 |
8 |
144513686 |
frameshift variant |
T/-
|
delins
|
|
7.0E-06
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1554901674
|
1.000 |
0.080 |
8 |
144515786 |
stop gained |
C/T
|
snv
|
|
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1564804479
|
1.000 |
0.120 |
8 |
144515873 |
stop gained |
C/T
|
snv
|
|
|
Rothmund-Thomson syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs3757966
|
|
|
8 |
144519234 |
intron variant |
G/A
|
snv
|
|
0.38
|
RDW - Red blood cell distribution width result
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs3757966
|
|
|
8 |
144519234 |
intron variant |
G/A
|
snv
|
|
0.38
|
Red cell distribution width determination
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs386833852
|
0.925 |
0.240 |
8 |
144512308 |
frameshift variant |
T/-
|
del
|
|
4.9E-05
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs4244612
|
|
|
8 |
144516318 |
missense variant |
C/G
|
snv
|
0.44
|
0.42
|
Intelligence
|
Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs746691436
|
1.000 |
0.080 |
8 |
144513610 |
stop gained |
G/A
|
snv
|
3.0E-05
|
7.0E-06
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1060501353
|
1.000 |
0.080 |
8 |
144515985 |
splice donor variant |
ACCT/-
|
delins
|
|
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1060501370
|
1.000 |
0.080 |
8 |
144516314 |
frameshift variant |
A/-
|
del
|
|
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1060501384
|
1.000 |
0.080 |
8 |
144516104 |
frameshift variant |
G/-
|
delins
|
|
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1064796290
|
1.000 |
0.080 |
8 |
144516367 |
frameshift variant |
C/-
|
del
|
|
7.0E-06
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs117642173
|
0.925 |
0.160 |
8 |
144515243 |
splice acceptor variant |
C/T
|
snv
|
3.6E-05
|
4.9E-05
|
Rothmund-Thomson syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1220902289
|
1.000 |
0.080 |
8 |
144515819 |
frameshift variant |
C/-
|
del
|
4.0E-06
|
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1317950691
|
1.000 |
0.080 |
8 |
144516478 |
stop gained |
G/A;T
|
snv
|
4.1E-06
|
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs137853229
|
0.851 |
0.240 |
8 |
144513412 |
stop gained |
G/A
|
snv
|
1.2E-04
|
8.4E-05
|
Rothmund-Thomson syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs137853229
|
0.851 |
0.240 |
8 |
144513412 |
stop gained |
G/A
|
snv
|
1.2E-04
|
8.4E-05
|
Rapadilino syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs137853230
|
1.000 |
0.240 |
8 |
144512033 |
stop gained |
G/A
|
snv
|
|
|
Rapadilino syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs137853231
|
1.000 |
0.240 |
8 |
144516313 |
stop gained |
C/G;T
|
snv
|
4.1E-06;
4.1E-06;
4.1E-06
|
|
Rapadilino syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1483085748
|
1.000 |
0.040 |
8 |
144514350 |
stop gained |
G/A
|
snv
|
|
|
Malignant Fibrous Histiocytoma
|
Neoplasms
|
0.700 |
|
0 |
|
|