XYLT2, xylosyltransferase 2, 64132

N. diseases: 138; N. variants: 7
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: rs6504649
rs6504649 		0.882 0.280 17 50360095 missense variant C/G;T snv 0.33; 3.2E-05
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.710 1.000 1 2006 2006
dbSNP: rs797044806
rs797044806 		0.925 17 50354465 frameshift variant -/C delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 2015 2018
dbSNP: rs797044806
rs797044806 		0.925 17 50354465 frameshift variant -/C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 4 2015 2018
dbSNP: rs1423415130
rs1423415130 		0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.700 0
dbSNP: rs1423415130
rs1423415130 		0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06
CUI: C0262431
Disease: Compression fracture of vertebral column
Compression fracture of vertebral column 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries 0.700 0
dbSNP: rs1423415130
rs1423415130 		0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06
CUI: C0029453
Disease: Osteopenia
Osteopenia 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1423415130
rs1423415130 		0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		Eye Diseases 0.700 0
dbSNP: rs1423415130
rs1423415130 		0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.700 0
dbSNP: rs1423415130
rs1423415130 		0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06
CUI: C1834124
Disease: Shield chest
Shield chest 		0.700 0
dbSNP: rs6504649
rs6504649 		0.882 0.280 17 50360095 missense variant C/G;T snv 0.33; 3.2E-05
CUI: C3279392
Disease: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF 		0.700 0
dbSNP: rs797044806
rs797044806 		0.925 17 50354465 frameshift variant -/C delins
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.700 0
dbSNP: rs797044807
rs797044807 		1.000 17 50354013 frameshift variant G/- delins
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.700 0
dbSNP: rs113835371
rs113835371 		17 50353660 missense variant G/A snv 9.3E-03 1.0E-02
CUI: C0037284
Disease: Skin lesion
Skin lesion 		Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs4794136
rs4794136 		1.000 0.040 17 50356597 synonymous variant T/C snv 0.44 0.47
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2006 2006
dbSNP: rs6504649
rs6504649 		0.882 0.280 17 50360095 missense variant C/G;T snv 0.33; 3.2E-05
CUI: C0037284
Disease: Skin lesion
Skin lesion 		Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs6504649
rs6504649 		0.882 0.280 17 50360095 missense variant C/G;T snv 0.33; 3.2E-05
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs745745346
rs745745346 		1.000 0.080 17 50354918 missense variant C/T snv 2.1E-05 3.5E-05
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2003 2003