rs74315305
|
1.000 |
0.120 |
1 |
150806109 |
missense variant |
C/T
|
snv
|
|
|
Pycnodysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.800 |
1.000 |
6 |
1996 |
2015 |
rs375958814
|
1.000 |
0.120 |
1 |
150796855 |
stop gained |
G/A;C;T
|
snv
|
1.2E-05;
4.0E-06;
4.0E-06
|
|
Pycnodysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
4 |
1999 |
2014 |
rs1057517252
|
1.000 |
0.120 |
1 |
150806780 |
missense variant |
A/G
|
snv
|
|
|
Pycnodysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
1999 |
2000 |
rs202040269
|
1.000 |
0.120 |
1 |
150804071 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Pycnodysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
1999 |
1999 |
rs29001685
|
1.000 |
0.120 |
1 |
150796863 |
missense variant |
A/G
|
snv
|
4.0E-06
|
7.0E-06
|
Pycnodysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.800 |
1.000 |
2 |
2000 |
2011 |
rs1057516514
|
1.000 |
0.120 |
1 |
150804213 |
frameshift variant |
A/-
|
delins
|
|
|
Pycnodysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs1553196900
|
1.000 |
0.120 |
1 |
150799182 |
stop gained |
C/T
|
snv
|
|
|
Pycnodysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2001 |
2001 |
rs1553196906
|
1.000 |
0.120 |
1 |
150799232 |
frameshift variant |
G/-
|
delins
|
|
|
Pycnodysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2001 |
2001 |
rs1202737189
|
1.000 |
0.120 |
1 |
150799693 |
missense variant |
T/C
|
snv
|
|
7.0E-06
|
Pycnodysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs371277428
|
1.000 |
0.120 |
1 |
150806209 |
missense variant |
G/A
|
snv
|
3.2E-05
|
7.0E-06
|
Pycnodysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2007 |
2016 |
rs778368118
|
1.000 |
0.120 |
1 |
150806803 |
start lost |
C/A;T
|
snv
|
4.0E-06
|
|
Pycnodysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |