HSPG2, heparan sulfate proteoglycan 2, 3339

N. diseases: 405; N. variants: 11
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: rs137853248
rs137853248 		0.925 0.080 1 21864874 missense variant C/T snv 4.3E-06
CUI: C4551479
Disease: Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2000 2000
dbSNP: rs142149919
rs142149919 		1.000 0.080 1 21861803 missense variant G/A snv 1.7E-04 1.7E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2229482
rs2229482 		1 21872752 synonymous variant C/A;G;T snv 0.56
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs2445130
rs2445130 		1.000 0.080 1 21911229 intron variant A/G snv 0.93
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs745452577
rs745452577 		1.000 0.040 1 21865798 synonymous variant G/A snv 3.2E-05 2.1E-05
CUI: C0036346
Disease: Schizophrenia, Childhood
Schizophrenia, Childhood 		Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs886039909
rs886039909 		0.882 0.120 1 21864095 splice region variant C/T snv
CUI: C4551479
Disease: Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs886039909
rs886039909 		0.882 0.120 1 21864095 splice region variant C/T snv
CUI: C0016202
Disease: Flatfoot
Flatfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs886039909
rs886039909 		0.882 0.120 1 21864095 splice region variant C/T snv
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		0.700 0
dbSNP: rs886039909
rs886039909 		0.882 0.120 1 21864095 splice region variant C/T snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs886039909
rs886039909 		0.882 0.120 1 21864095 splice region variant C/T snv
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs886039909
rs886039909 		0.882 0.120 1 21864095 splice region variant C/T snv
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		Nervous System Diseases 0.700 0
dbSNP: rs2445142
rs2445142 		0.925 0.120 1 21899250 intron variant G/A;C snv
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.030 1.000 3 2010 2018
dbSNP: rs2445142
rs2445142 		0.925 0.120 1 21899250 intron variant G/A;C snv
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 0.030 1.000 3 2010 2018
dbSNP: rs137853248
rs137853248 		0.925 0.080 1 21864874 missense variant C/T snv 4.3E-06
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 2007 2008
dbSNP: rs1312344491
rs1312344491 		1.000 0.080 1 21937206 frameshift variant -/G ins
CUI: C4551479
Disease: Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1327754652
rs1327754652 		1.000 0.080 1 21836802 missense variant C/T snv 5.9E-06 1.4E-05
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3767140
rs3767140 		1.000 0.080 1 21888152 intron variant C/A snv 0.25
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3767140
rs3767140 		1.000 0.080 1 21888152 intron variant C/A snv 0.25
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3767140
rs3767140 		1.000 0.080 1 21888152 intron variant C/A snv 0.25
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs878949
rs878949 		0.925 0.120 1 21900598 intron variant T/C snv 0.52
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs878949
rs878949 		0.925 0.120 1 21900598 intron variant T/C snv 0.52
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2012 2012