rs797045046
|
0.925 |
0.120 |
20 |
58891760 |
stop gained |
C/G;T
|
snv
|
5.0E-06
|
|
Pseudopseudohypoparathyroidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
4 |
2000 |
2016 |
rs137854535
|
0.925 |
0.120 |
20 |
58909737 |
missense variant |
C/T
|
snv
|
|
|
Pseudopseudohypoparathyroidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
1998 |
1998 |
rs1555889131
|
1.000 |
0.120 |
20 |
58903792 |
splice donor variant |
G/A
|
snv
|
|
|
Pseudopseudohypoparathyroidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1057518907
|
0.732 |
0.320 |
20 |
58891811 |
stop gained |
C/G;T
|
snv
|
|
|
Pseudopseudohypoparathyroidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1135401777
|
0.925 |
0.120 |
20 |
58853740 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Pseudopseudohypoparathyroidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1272546759
|
0.925 |
0.120 |
20 |
58909718 |
missense variant |
C/G;T
|
snv
|
|
7.0E-06
|
Pseudopseudohypoparathyroidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs137854530
|
0.776 |
0.240 |
20 |
58891727 |
start lost |
A/G;T
|
snv
|
|
|
Pseudopseudohypoparathyroidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs137854536
|
1.000 |
0.120 |
20 |
58909737 |
missense variant |
CG/GC
|
mnv
|
|
|
Pseudopseudohypoparathyroidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs137854539
|
0.716 |
0.520 |
20 |
58903703 |
missense variant |
C/T
|
snv
|
|
|
Pseudopseudohypoparathyroidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1569015549
|
1.000 |
0.120 |
20 |
58903573 |
missense variant |
A/C
|
snv
|
|
|
Pseudopseudohypoparathyroidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs587776829
|
0.882 |
0.200 |
20 |
58909194 |
frameshift variant |
GACT/-
|
delins
|
|
|
Pseudopseudohypoparathyroidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|