Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs875989883
rs875989883 		0.851 0.280 X 22219070 missense variant G/A;C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
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
dbSNP: rs137853269
rs137853269 		1.000 0.200 X 22047116 missense variant G/A snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
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
dbSNP: rs137853270
rs137853270 		1.000 0.200 X 22212922 missense variant T/C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
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
dbSNP: rs1556014287
rs1556014287 		1.000 0.200 X 22047115 missense variant T/C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
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
dbSNP: rs1556091855
rs1556091855 		1.000 0.200 X 22190447 missense variant G/C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
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
dbSNP: rs1556135308
rs1556135308 		1.000 0.200 X 22219053 missense variant C/A snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
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
dbSNP: rs1556200989
rs1556200989 		1.000 0.200 X 22245340 missense variant G/A snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
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
dbSNP: rs1556206403
rs1556206403 		1.000 0.200 X 22247948 missense variant T/C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
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
dbSNP: rs1540283
rs1540283 		X 22129934 intron variant C/G;T snv
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		0.800 1.000 1 2012 2012
dbSNP: rs1057517980
rs1057517980 		1.000 0.200 X 22219071 missense variant G/A;T snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
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
dbSNP: rs1556151526
rs1556151526 		1.000 0.200 X 22227581 missense variant C/A snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
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
dbSNP: rs267606945
rs267606945 		1.000 0.200 X 22094005 missense variant T/C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
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
dbSNP: rs267606946
rs267606946 		1.000 0.200 X 22094009 missense variant G/A snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
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
dbSNP: rs1569442206
rs1569442206 		1.000 0.200 X 22245402 stop gained C/T snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
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
dbSNP: rs178710
rs178710 		X 22032916 5 prime UTR variant A/G snv
CUI: C0523827
Disease: Inorganic phosphate measurement
Inorganic phosphate measurement 		0.700 1.000 1 2018 2018
dbSNP: rs178710
rs178710 		X 22032916 5 prime UTR variant A/G snv
CUI: C0202178
Disease: Phosphorus measurement
Phosphorus measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3752433
rs3752433 		X 22221603 intron variant C/T snv 0.26 0.34
CUI: C0002957
Disease: Anger
Anger 		Behavior and Behavior Mechanisms 0.700 1.000 1 2014 2014
dbSNP: rs3752433
rs3752433 		X 22221603 intron variant C/T snv 0.26 0.34
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		Behavior and Behavior Mechanisms 0.700 1.000 1 2014 2014
dbSNP: rs1057517981
rs1057517981 		1.000 0.200 X 22247901 missense variant G/A;C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
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
dbSNP: rs1057518896
rs1057518896 		1.000 0.080 X 22247868 stop gained -/AACT delins
CUI: C0023222
Disease: Pain in lower limb
Pain in lower limb 		0.700 0
dbSNP: rs1057518896
rs1057518896 		1.000 0.080 X 22247868 stop gained -/AACT delins
CUI: C1704375
Disease: Hypophosphatemic Rickets
Hypophosphatemic Rickets 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518896
rs1057518896 		1.000 0.080 X 22247868 stop gained -/AACT delins
CUI: C0544755
Disease: Genu varum
Genu varum 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1057521800
rs1057521800 		1.000 0.200 X 22219074 missense variant A/G snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
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
dbSNP: rs1064793956
rs1064793956 		1.000 0.200 X 22090444 frameshift variant TC/- delins
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
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
dbSNP: rs1064796928
rs1064796928 		1.000 0.200 X 22178377 splice donor variant G/A;T snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
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