rs121908248
|
0.925 |
0.200 |
6 |
131860388 |
missense variant |
G/C;T
|
snv
|
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.800 |
1.000 |
3 |
2010 |
2015 |
rs121908249
|
1.000 |
0.200 |
6 |
131890435 |
missense variant |
A/C;G
|
snv
|
4.0E-06
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.800 |
1.000 |
3 |
2010 |
2015 |
rs370184526
|
0.925 |
0.200 |
6 |
131884994 |
missense variant |
A/G
|
snv
|
7.6E-05
|
6.3E-05
|
Hypophosphatemic Rickets, Autosomal Recessive, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
1.000 |
3 |
2010 |
2015 |
rs1554278331
|
1.000 |
0.200 |
6 |
131850106 |
splice donor variant |
G/-
|
delins
|
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs373044722
|
0.925 |
0.200 |
6 |
131872926 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs587776797
|
1.000 |
0.200 |
6 |
131883709 |
frameshift variant |
-/A
|
delins
|
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs763922486
|
0.925 |
0.200 |
6 |
131849999 |
missense variant |
G/A;T
|
snv
|
1.2E-05;
4.0E-06
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|