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: rs755686699
rs755686699 		0.882 0.200 X 22221653 stop gained G/A;T snv 5.5E-06
CUI: C3536984
Disease: Vitamin D-Resistant Rickets, X-Linked
Vitamin D-Resistant Rickets, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs5925720
rs5925720 		0.925 0.040 X 23001200 missense variant G/T snv 0.15 9.4E-02
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs113288656
rs113288656 		X 22417389 intron variant T/C snv 2.1E-02
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs73198917
rs73198917 		X 22890680 intron variant G/A snv 4.5E-02
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs113288656
rs113288656 		X 22417389 intron variant T/C snv 2.1E-02
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs73198917
rs73198917 		X 22890680 intron variant G/A snv 4.5E-02
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs875989883
rs875989883 		0.851 0.280 X 22219070 missense variant G/A;C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs875989883
rs875989883 		0.851 0.280 X 22219070 missense variant G/A;C snv
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		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: rs875989883
rs875989883 		0.851 0.280 X 22219070 missense variant G/A;C snv
CUI: C0029442
Disease: Osteomalacia
Osteomalacia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs5925720
rs5925720 		0.925 0.040 X 23001200 missense variant G/T snv 0.15 9.4E-02
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs5925720
rs5925720 		0.925 0.040 X 23001200 missense variant G/T snv 0.15 9.4E-02
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
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: 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: 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: 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: 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: 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: 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: rs755686699
rs755686699 		0.882 0.200 X 22221653 stop gained G/A;T snv 5.5E-06
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 0.010 1.000 1 2007 2007
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: 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: rs1240767654
rs1240767654 		1.000 0.200 X 22226509 splice donor 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 0
dbSNP: rs137853271
rs137853271 		1.000 0.200 X 22212957 stop gained C/A;T snv 5.5E-06
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