COL5A2, collagen type V alpha 2 chain, 1290

N. diseases: 139; N. variants: 20
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: rs1559085564
rs1559085564 		1.000 2 189062909 missense variant C/T snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 1.000 5 1993 2013
dbSNP: rs11186
rs11186 		0.925 0.040 2 189032668 3 prime UTR variant A/C snv 9.4E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs114613161
rs114613161 		2 189111206 intron variant G/A snv 1.6E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1553513657
rs1553513657 		1.000 2 189045799 splice donor variant C/T snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 1 2013 2013
dbSNP: rs1559104199
rs1559104199 		1.000 2 189100106 splice donor variant C/A snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 1.000 1 2013 2013
dbSNP: rs863223491
rs863223491 		0.925 0.160 2 189062865 splice region variant C/T snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 1 2013 2013
dbSNP: rs1186550791
rs1186550791 		1.000 2 189051364 missense variant C/G snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 0
dbSNP: rs121912930
rs121912930 		1.000 2 189043177 missense variant C/G snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 0
dbSNP: rs1553512393
rs1553512393 		1.000 2 189034971 frameshift variant A/- del
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 0
dbSNP: rs1553513971
rs1553513971 		1.000 2 189048264 splice acceptor variant T/C snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 0
dbSNP: rs1553514506
rs1553514506 		1.000 2 189053422 splice donor variant A/- del
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 0
dbSNP: rs1553515517
rs1553515517 		1.000 2 189065000 splice region variant T/C snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 0
dbSNP: rs1553517181
rs1553517181 		0.925 0.040 2 189084028 missense variant C/T snv
CUI: C0002940
Disease: Aneurysm
Aneurysm 		Cardiovascular Diseases 0.700 0
dbSNP: rs1553517181
rs1553517181 		0.925 0.040 2 189084028 missense variant C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1553517323
rs1553517323 		1.000 2 189085204 missense variant C/A snv
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		0.700 0
dbSNP: rs1553517323
rs1553517323 		1.000 2 189085204 missense variant C/A snv
CUI: C0575157
Disease: Deformity of spine
Deformity of spine 		0.700 0
dbSNP: rs1553517323
rs1553517323 		1.000 2 189085204 missense variant C/A snv
CUI: C0423113
Disease: Telecanthus
Telecanthus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1553517323
rs1553517323 		1.000 2 189085204 missense variant C/A snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1559085578
rs1559085578 		1.000 2 189062922 splice region variant G/C snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 0
dbSNP: rs563606558
rs563606558 		2 189179604 start lost T/C snv 3.4E-05 1.4E-05
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs770974455
rs770974455 		0.925 0.040 2 189045834 missense variant C/A;T snv 8.0E-06
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs770974455
rs770974455 		0.925 0.040 2 189045834 missense variant C/A;T snv 8.0E-06
CUI: C0002940
Disease: Aneurysm
Aneurysm 		Cardiovascular Diseases 0.700 0
dbSNP: rs786205103
rs786205103 		1.000 2 189062914 splice acceptor variant GCTCCCT/- del
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 0
dbSNP: rs786205104
rs786205104 		1.000 2 189061561 splice donor variant C/A snv
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 0
dbSNP: rs878853978
rs878853978 		1.000 2 189045800 splice region variant C/T snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 0