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: 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: 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: rs5925651
rs5925651 		1.000 0.040 X 22651114 intron variant C/A snv 0.24
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs755686699
rs755686699 		0.882 0.200 X 22221653 stop gained G/A;T snv 5.5E-06
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		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: rs875989883
rs875989883 		0.851 0.280 X 22219070 missense variant G/A;C snv
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		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: rs875989883
rs875989883 		0.851 0.280 X 22219070 missense variant G/A;C snv
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		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: rs875989883
rs875989883 		0.851 0.280 X 22219070 missense variant G/A;C snv
CUI: C0544755
Disease: Genu varum
Genu varum 		Musculoskeletal Diseases 0.700 0
dbSNP: rs875989883
rs875989883 		0.851 0.280 X 22219070 missense variant G/A;C snv
CUI: C3665628
Disease: Hypomineralization of enamel of tooth
Hypomineralization of enamel of tooth 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs875989883
rs875989883 		0.851 0.280 X 22219070 missense variant G/A;C snv
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		Nutritional and Metabolic Diseases 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: 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
dbSNP: rs1400504292
rs1400504292 		1.000 0.200 X 22221719 stop gained T/C;G snv 3.8E-05
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