rs28934604
|
1.000 |
0.200 |
12 |
57766073 |
missense variant |
C/T
|
snv
|
|
|
Vitamin D-dependent rickets, type 1
|
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 |
9 |
1998 |
2015 |
rs118204009
|
0.925 |
0.280 |
12 |
57764147 |
missense variant |
C/T
|
snv
|
1.0E-04
|
4.2E-05
|
Vitamin D-dependent rickets, type 1
|
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 |
5 |
1998 |
2012 |
rs28934605
|
1.000 |
0.200 |
12 |
57766019 |
missense variant |
C/T
|
snv
|
|
|
Vitamin D-dependent rickets, type 1
|
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 |
5 |
1998 |
2002 |
rs28934606
|
1.000 |
0.200 |
12 |
57764510 |
missense variant |
C/G;T
|
snv
|
1.2E-05
|
|
Vitamin D-dependent rickets, type 1
|
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 |
5 |
1998 |
2002 |
rs28934607
|
1.000 |
0.200 |
12 |
57764169 |
missense variant |
G/A
|
snv
|
|
|
Vitamin D-dependent rickets, type 1
|
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 |
5 |
1998 |
2002 |
rs568165874
|
1.000 |
0.200 |
12 |
57763738 |
missense variant |
C/G;T
|
snv
|
9.9E-05
|
|
Vitamin D-dependent rickets, type 1
|
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 |
5 |
1998 |
2002 |
rs1057520815
|
1.000 |
0.200 |
12 |
57766088 |
missense variant |
C/T
|
snv
|
|
|
Vitamin D-dependent rickets, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.710 |
1.000 |
1 |
2010 |
2010 |
rs118204007
|
1.000 |
0.200 |
12 |
57764755 |
missense variant |
G/C
|
snv
|
|
|
Vitamin D-dependent rickets, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.800 |
|
0 |
|
|
rs118204008
|
1.000 |
0.200 |
12 |
57763798 |
missense variant |
G/A
|
snv
|
3.6E-05
|
3.5E-05
|
Vitamin D-dependent rickets, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.800 |
|
0 |
|
|
rs118204010
|
1.000 |
0.200 |
12 |
57764148 |
missense variant |
G/A;C
|
snv
|
1.6E-05
|
|
Vitamin D-dependent rickets, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.800 |
|
0 |
|
|
rs118204011
|
1.000 |
0.200 |
12 |
57764487 |
missense variant |
G/A
|
snv
|
|
|
Vitamin D-dependent rickets, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.800 |
|
0 |
|
|
rs118204012
|
1.000 |
0.200 |
12 |
57765320 |
missense variant |
T/C
|
snv
|
|
|
Vitamin D-dependent rickets, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.800 |
|
0 |
|
|
rs1161799032
|
1.000 |
0.200 |
12 |
57763179 |
missense variant |
G/C
|
snv
|
1.6E-05
|
|
Vitamin D-dependent rickets, type 1
|
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 |
|
|
rs387906258
|
1.000 |
0.200 |
12 |
57765170 |
frameshift variant |
C/-
|
delins
|
|
|
Vitamin D-dependent rickets, type 1
|
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 |
|
|
rs387906259
|
1.000 |
0.200 |
12 |
57765108 |
frameshift variant |
G/-
|
delins
|
|
|
Vitamin D-dependent rickets, type 1
|
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 |
|
|
rs387906260
|
1.000 |
0.200 |
12 |
57766131 |
frameshift variant |
C/-
|
del
|
3.5E-05
|
3.5E-05
|
Vitamin D-dependent rickets, type 1
|
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 |
|
|
rs555068245
|
1.000 |
0.200 |
12 |
57763649 |
missense variant |
G/A;C
|
snv
|
4.8E-05
|
|
Vitamin D-dependent rickets, type 1
|
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 |
|
|
rs761780097
|
1.000 |
0.200 |
12 |
57765296 |
splice donor variant |
C/G;T
|
snv
|
8.2E-06
|
|
Vitamin D-dependent rickets, type 1
|
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 |
|
|
rs767480544
|
1.000 |
0.200 |
12 |
57763667 |
missense variant |
G/A
|
snv
|
1.6E-05
|
1.4E-05
|
Vitamin D-dependent rickets, type 1
|
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 |
|
|
rs868704228
|
1.000 |
0.200 |
12 |
57766847 |
missense variant |
C/A
|
snv
|
|
|
Vitamin D-dependent rickets, type 1
|
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 |
|
|