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 |
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 |
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 |
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 |
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 |
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 |
rs113288656
|
|
|
X |
22417389 |
intron variant |
T/C
|
snv
|
|
2.1E-02
|
Smoking
|
Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs113288656
|
|
|
X |
22417389 |
intron variant |
T/C
|
snv
|
|
2.1E-02
|
Smoking Behaviors
|
Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2015 |
2015 |
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 |
rs5925651
|
1.000 |
0.040 |
X |
22651114 |
intron variant |
C/A
|
snv
|
|
0.24
|
Common Variable Immunodeficiency
|
Immune System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs73198917
|
|
|
X |
22890680 |
intron variant |
G/A
|
snv
|
|
4.5E-02
|
Smoking Behaviors
|
Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs73198917
|
|
|
X |
22890680 |
intron variant |
G/A
|
snv
|
|
4.5E-02
|
Smoking
|
Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2015 |
2015 |
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 |
|
|
rs1057518896
|
1.000 |
0.080 |
X |
22247868 |
stop gained |
-/AACT
|
delins
|
|
|
Pain in lower limb
|
|
0.700 |
|
0 |
|
|
rs1057518896
|
1.000 |
0.080 |
X |
22247868 |
stop gained |
-/AACT
|
delins
|
|
|
Hypophosphatemic Rickets
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1057518896
|
1.000 |
0.080 |
X |
22247868 |
stop gained |
-/AACT
|
delins
|
|
|
Genu varum
|
Musculoskeletal 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 |
|
|
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 |
|
|
rs1556128043
|
1.000 |
0.200 |
X |
22212906 |
frameshift variant |
TT/-
|
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 |
|
|
rs1556128253
|
1.000 |
0.200 |
X |
22212960 |
splice donor 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 |
|
|
rs1556135242
|
1.000 |
0.200 |
X |
22219041 |
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 |
|
|
rs1556135467
|
1.000 |
0.200 |
X |
22219088 |
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 |
|
0 |
|
|
rs1556135477
|
1.000 |
0.200 |
X |
22219089 |
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 |
|
0 |
|
|
rs1556138407
|
1.000 |
0.200 |
X |
22221617 |
stop gained |
-/AATA
|
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 |
|
|