rs1060501383
|
1.000 |
0.080 |
8 |
144514983 |
frameshift variant |
AGGGGC/GGGGG
|
delins
|
|
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
6 |
2000 |
2016 |
rs1554902811
|
1.000 |
|
8 |
144516327 |
stop gained |
C/T
|
snv
|
|
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
5 |
2006 |
2015 |
rs1554902811
|
1.000 |
|
8 |
144516327 |
stop gained |
C/T
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
5 |
2006 |
2015 |
rs398124117
|
1.000 |
0.080 |
8 |
144513139 |
splice acceptor variant |
C/G;T
|
snv
|
1.0E-04;
5.0E-06
|
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2003 |
2009 |
rs1050860620
|
1.000 |
0.080 |
8 |
144515987 |
splice donor variant |
C/A;G;T
|
snv
|
4.1E-06
|
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2003 |
2003 |
rs1085307090
|
0.882 |
0.240 |
8 |
144515325 |
splice donor variant |
C/A
|
snv
|
|
|
Rothmund-Thomson syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2000 |
2003 |
rs1085307090
|
0.882 |
0.240 |
8 |
144515325 |
splice donor variant |
C/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 |
1.000 |
2 |
2000 |
2003 |
rs1085307090
|
0.882 |
0.240 |
8 |
144515325 |
splice donor variant |
C/A
|
snv
|
|
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2000 |
2003 |
rs1402322681
|
1.000 |
0.080 |
8 |
144512563 |
splice acceptor variant |
T/C
|
snv
|
4.0E-06
|
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2003 |
2003 |
rs1564791894
|
1.000 |
0.080 |
8 |
144512772 |
splice acceptor variant |
C/T
|
snv
|
|
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2003 |
2003 |
rs752301125
|
1.000 |
0.080 |
8 |
144511790 |
splice acceptor variant |
C/G;T
|
snv
|
2.0E-05
|
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2003 |
2003 |
rs760363252
|
0.925 |
0.160 |
8 |
144514441 |
splice donor variant |
C/T
|
snv
|
4.1E-06
|
|
Baller-Gerold syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2003 |
2003 |
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 |
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 |
rs1286406860
|
|
|
8 |
144513128 |
missense variant |
A/G
|
snv
|
4.9E-06
|
|
Neoplasms
|
Neoplasms
|
0.010 |
1.000 |
1 |
2004 |
2004 |
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 |
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 |
|
|
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 |
|
|
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 |
|
|