VCAN, versican, 1462

N. diseases: 205; N. variants: 16
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: rs80356553
rs80356553 		1.000 0.040 5 83542269 splice donor variant G/A;T snv
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		Eye Diseases 0.700 1.000 4 2006 2013
dbSNP: rs80356554
rs80356554 		1.000 0.040 5 83537006 splice acceptor variant G/A;C;T snv
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		Eye Diseases 0.700 1.000 3 2006 2013
dbSNP: rs80356555
rs80356555 		1.000 0.040 5 83537005 splice acceptor variant A/G;T snv
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		Eye Diseases 0.700 1.000 2 2005 2011
dbSNP: rs10514258
rs10514258 		1.000 0.120 5 83575938 intron variant A/G snv 0.13
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs115912456
rs115912456 		5 83519339 intron variant A/G snv 3.0E-02 2.8E-02
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		0.700 1.000 1 2019 2019
dbSNP: rs2287926
rs2287926 		5 83519589 missense variant G/A snv 0.15 0.17
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 1.000 1 2017 2017
dbSNP: rs310518
rs310518 		1.000 0.120 5 83523300 intron variant G/A snv 1.4E-02
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs34580448
rs34580448 		5 83515065 intron variant T/C snv 2.8E-02
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 1.000 1 2019 2019
dbSNP: rs397515437
rs397515437 		1.000 0.040 5 83542270 splice donor variant T/A snv
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs80356556
rs80356556 		1.000 0.040 5 83537002 splice region variant T/A;C snv
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		Eye Diseases 0.700 1.000 1 2006 2006
dbSNP: rs864309744
rs864309744 		1.000 0.040 5 83537001 splice region variant T/A snv
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs173686
rs173686 		1.000 0.080 5 83515681 intron variant A/G;T snv
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		Nervous System Diseases; Cardiovascular Diseases 0.020 0.500 2 2006 2007
dbSNP: rs160277
rs160277 		0.925 0.080 5 83541812 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 0.38
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs160277
rs160277 		0.925 0.080 5 83541812 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 0.38
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs251124
rs251124 		1.000 0.080 5 83509605 intron variant C/A;T snv
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs2652106
rs2652106 		1.000 0.040 5 83498217 intron variant G/T snv 0.39
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs757070887
rs757070887 		1.000 0.080 5 83512237 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 < 0.001 1 2015 2015