rs875989883
|
0.851 |
0.280 |
X |
22219070 |
missense variant |
G/A;C
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
11 |
1997 |
2015 |
rs137853269
|
1.000 |
0.200 |
X |
22047116 |
missense variant |
G/A
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
8 |
1997 |
2000 |
rs137853270
|
1.000 |
0.200 |
X |
22212922 |
missense variant |
T/C
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
8 |
1997 |
2000 |
rs1556014287
|
1.000 |
0.200 |
X |
22047115 |
missense variant |
T/C
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
8 |
1997 |
2000 |
rs1556091855
|
1.000 |
0.200 |
X |
22190447 |
missense variant |
G/C
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
8 |
1997 |
2000 |
rs1556135308
|
1.000 |
0.200 |
X |
22219053 |
missense variant |
C/A
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
8 |
1997 |
2000 |
rs1556200989
|
1.000 |
0.200 |
X |
22245340 |
missense variant |
G/A
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
8 |
1997 |
2000 |
rs1556206403
|
1.000 |
0.200 |
X |
22247948 |
missense variant |
T/C
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
8 |
1997 |
2000 |
rs1057517980
|
1.000 |
0.200 |
X |
22219071 |
missense variant |
G/A;T
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
8 |
1997 |
2000 |
rs1556151526
|
1.000 |
0.200 |
X |
22227581 |
missense variant |
C/A
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
8 |
1997 |
2000 |
rs267606945
|
1.000 |
0.200 |
X |
22094005 |
missense variant |
T/C
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
8 |
1997 |
2000 |
rs267606946
|
1.000 |
0.200 |
X |
22094009 |
missense variant |
G/A
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
8 |
1997 |
2000 |
rs1569442206
|
1.000 |
0.200 |
X |
22245402 |
stop gained |
C/T
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
1 |
2009 |
2009 |
rs1057517981
|
1.000 |
0.200 |
X |
22247901 |
missense variant |
G/A;C
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
|
|
rs1057521800
|
1.000 |
0.200 |
X |
22219074 |
missense variant |
A/G
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
|
|
rs1064793956
|
1.000 |
0.200 |
X |
22090444 |
frameshift variant |
TC/-
|
delins
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
|
|
rs1064796928
|
1.000 |
0.200 |
X |
22178377 |
splice donor variant |
G/A;T
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
|
|
rs1085308012
|
1.000 |
0.200 |
X |
22133586 |
missense variant |
T/C
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
|
|
rs1131691731
|
1.000 |
0.200 |
X |
22033124 |
splice donor variant |
G/T
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
|
|
rs1240767654
|
1.000 |
0.200 |
X |
22226509 |
splice donor variant |
G/A
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
|
|
rs1269067103
|
1.000 |
0.200 |
X |
22168394 |
splice region variant |
G/C;T
|
snv
|
5.5E-06
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
|
|
rs137853268
|
1.000 |
0.200 |
X |
22094080 |
stop gained |
T/A
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
|
|
rs137853271
|
1.000 |
0.200 |
X |
22212957 |
stop gained |
C/A;T
|
snv
|
5.5E-06
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
|
|
rs1400504292
|
1.000 |
0.200 |
X |
22221719 |
stop gained |
T/C;G
|
snv
|
3.8E-05
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
|
|
rs1556010757
|
1.000 |
0.200 |
X |
22033080 |
frameshift variant |
-/T
|
delins
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
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 |
|
|