rs77543610
|
0.667 |
0.560 |
10 |
121520160 |
missense variant |
G/C
|
snv
|
|
|
Apert syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.900 |
1.000 |
30 |
1995 |
2018 |
rs121918490
|
0.851 |
0.080 |
10 |
121517342 |
missense variant |
G/C
|
snv
|
|
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
26 |
1985 |
2017 |
rs121918490
|
0.851 |
0.080 |
10 |
121517342 |
missense variant |
G/C
|
snv
|
|
|
Overgrowth
|
|
0.700 |
1.000 |
26 |
1985 |
2017 |
rs121918490
|
0.851 |
0.080 |
10 |
121517342 |
missense variant |
G/C
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
26 |
1985 |
2017 |
rs1554928978
|
1.000 |
|
10 |
121517425 |
splice acceptor variant |
CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC/-
|
delins
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
26 |
1985 |
2017 |
rs1554928978
|
1.000 |
|
10 |
121517425 |
splice acceptor variant |
CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC/-
|
delins
|
|
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
26 |
1985 |
2017 |
rs1219648
|
0.716 |
0.320 |
10 |
121586676 |
intron variant |
A/G;T
|
snv
|
|
|
Breast Carcinoma
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
25 |
2007 |
2018 |
rs79184941
|
0.617 |
0.600 |
10 |
121520163 |
missense variant |
G/A;C
|
snv
|
5.6E-05;
4.0E-06
|
|
Apert syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
0.960 |
25 |
1995 |
2018 |
rs1219648
|
0.716 |
0.320 |
10 |
121586676 |
intron variant |
A/G;T
|
snv
|
|
|
Malignant neoplasm of breast
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
24 |
2007 |
2018 |
rs121918487
|
0.716 |
0.440 |
10 |
121517378 |
missense variant |
C/A;G;T
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.820 |
1.000 |
19 |
1994 |
2007 |
rs121918488
|
0.790 |
0.120 |
10 |
121517379 |
missense variant |
A/C;G;T
|
snv
|
|
|
Pfeiffer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.820 |
1.000 |
19 |
1994 |
2015 |
rs121918493
|
1.000 |
0.080 |
10 |
121517420 |
missense variant |
T/C
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
18 |
1994 |
2016 |
rs121918501
|
0.807 |
0.080 |
10 |
121520050 |
missense variant |
A/C;G
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.830 |
1.000 |
18 |
1994 |
2014 |
rs121918488
|
0.790 |
0.120 |
10 |
121517379 |
missense variant |
A/C;G;T
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.810 |
1.000 |
17 |
1994 |
2012 |
rs121918496
|
0.851 |
0.120 |
10 |
121517377 |
missense variant |
G/C
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.820 |
1.000 |
17 |
1994 |
2007 |
rs121918497
|
0.776 |
0.160 |
10 |
121520052 |
missense variant |
T/G
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.810 |
1.000 |
17 |
1994 |
2007 |
rs121918502
|
0.790 |
0.160 |
10 |
121517351 |
missense variant |
G/C
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.710 |
1.000 |
17 |
1994 |
2014 |
rs121918505
|
0.851 |
0.080 |
10 |
121520119 |
missense variant |
A/G
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.810 |
1.000 |
17 |
1994 |
2019 |
rs121918489
|
1.000 |
0.080 |
10 |
121517385 |
missense variant |
A/G
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
16 |
1994 |
2007 |
rs121918490
|
0.851 |
0.080 |
10 |
121517342 |
missense variant |
G/C
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.810 |
1.000 |
16 |
1994 |
2007 |
rs121918494
|
0.790 |
0.160 |
10 |
121517363 |
missense variant |
G/C
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
16 |
1994 |
2007 |
rs121918495
|
0.925 |
0.080 |
10 |
121517382 |
missense variant |
T/G
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
16 |
1994 |
2007 |
rs121918499
|
0.925 |
0.160 |
10 |
121520048 |
missense variant |
C/A;G
|
snv
|
|
|
Pfeiffer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.840 |
1.000 |
16 |
1995 |
2019 |
rs121918500
|
1.000 |
0.080 |
10 |
121520044 |
missense variant |
T/C
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
16 |
1994 |
2007 |
rs1554927408
|
0.742 |
0.480 |
10 |
121515254 |
missense variant |
C/T
|
snv
|
|
|
Craniofacial dysostosis type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
16 |
1994 |
2007 |