COL5A2, collagen type V alpha 2 chain, 1290

N. diseases: 139; N. variants: 20
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 ×
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: 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: 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: 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