rs1553517323, COL5A2

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Deformity of spine
CUI: C0575157
Disease: Deformity of spine
2 1.000 2 189085204 missense variant C/A snv 0.700 0
Hyperextensible skin
CUI: C0241074
Disease: Hyperextensible skin
11 1.000 2 189085204 missense variant C/A snv 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 1.000 2 189085204 missense variant C/A snv 0.700 0
Telecanthus
CUI: C0423113
Disease: Telecanthus
14 1.000 2 189085204 missense variant C/A snv 0.700 0