rs10510097
|
1.000 |
0.080 |
10 |
121568362 |
intron variant |
C/T
|
snv
|
|
0.19
|
Breast Carcinoma
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1057519036
|
0.925 |
0.080 |
10 |
121520092 |
missense variant |
A/C
|
snv
|
|
|
Apert syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
6 |
1998 |
2014 |
rs1057519036
|
0.925 |
0.080 |
10 |
121520092 |
missense variant |
A/C
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
|
0 |
|
|
rs1057519037
|
0.925 |
0.120 |
10 |
121520084 |
missense variant |
GC/AA;TA
|
mnv
|
|
|
Cutis Gyrata Syndrome of Beare And Stevenson
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
4 |
1995 |
2014 |
rs1057519037
|
0.925 |
0.120 |
10 |
121520084 |
missense variant |
GC/AA;TA
|
mnv
|
|
|
Pfeiffer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1057519038
|
0.882 |
0.120 |
10 |
121520076 |
missense variant |
T/C
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.710 |
1.000 |
0 |
2002 |
2002 |
rs1057519039
|
1.000 |
0.080 |
10 |
121520049 |
missense variant |
C/G
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1057519040
|
1.000 |
0.080 |
10 |
121519995 |
missense variant |
T/C
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1057519041
|
0.925 |
0.160 |
10 |
121517465 |
splice acceptor variant |
T/C
|
snv
|
|
|
Congenital posterior urethral valves
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1057519041
|
0.925 |
0.160 |
10 |
121517465 |
splice acceptor variant |
T/C
|
snv
|
|
|
Pfeiffer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1057519042
|
1.000 |
0.080 |
10 |
121517396 |
missense variant |
T/C
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1057519043
|
0.851 |
0.120 |
10 |
121517391 |
missense variant |
C/A;G;T
|
snv
|
|
|
Cutis Gyrata Syndrome of Beare And Stevenson
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
4 |
1996 |
2013 |
rs1057519043
|
0.851 |
0.120 |
10 |
121517391 |
missense variant |
C/A;G;T
|
snv
|
|
|
Apert syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
4 |
1995 |
2018 |
rs1057519043
|
0.851 |
0.120 |
10 |
121517391 |
missense variant |
C/A;G;T
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.710 |
1.000 |
0 |
2018 |
2018 |
rs1057519044
|
0.752 |
0.440 |
10 |
121517390 |
missense variant |
C/T
|
snv
|
|
|
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1057519044
|
0.752 |
0.440 |
10 |
121517390 |
missense variant |
C/T
|
snv
|
|
|
Saethre-Chotzen Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1057519044
|
0.752 |
0.440 |
10 |
121517390 |
missense variant |
C/T
|
snv
|
|
|
Lacrimoauriculodentodigital syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057519044
|
0.752 |
0.440 |
10 |
121517390 |
missense variant |
C/T
|
snv
|
|
|
Apert syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1057519044
|
0.752 |
0.440 |
10 |
121517390 |
missense variant |
C/T
|
snv
|
|
|
Antley-Bixler Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1057519044
|
0.752 |
0.440 |
10 |
121517390 |
missense variant |
C/T
|
snv
|
|
|
JACKSON-WEISS SYNDROME
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1057519044
|
0.752 |
0.440 |
10 |
121517390 |
missense variant |
C/T
|
snv
|
|
|
Stomach Neoplasms
|
Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs1057519044
|
0.752 |
0.440 |
10 |
121517390 |
missense variant |
C/T
|
snv
|
|
|
Cutis Gyrata Syndrome of Beare And Stevenson
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1057519044
|
0.752 |
0.440 |
10 |
121517390 |
missense variant |
C/T
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1057519044
|
0.752 |
0.440 |
10 |
121517390 |
missense variant |
C/T
|
snv
|
|
|
BENT BONE DYSPLASIA SYNDROME
|
|
0.700 |
|
0 |
|
|
rs1057519044
|
0.752 |
0.440 |
10 |
121517390 |
missense variant |
C/T
|
snv
|
|
|
Pfeiffer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|