rs1057518871, COL5A1

N. diseases: 10
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.
Atrophic scar
CUI: C0162154
Disease: Atrophic scar
3 0.925 0.120 9 134798410 frameshift variant C/- delins 0.700 0
Bilateral talipes equinovarus
CUI: C1837835
Disease: Bilateral talipes equinovarus
6 0.925 0.120 9 134798410 frameshift variant C/- delins 0.700 0
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.925 0.120 9 134798410 frameshift variant C/- delins 0.700 0
Cutis Laxa
CUI: C0010495
Disease: Cutis Laxa
21 0.925 0.120 9 134798410 frameshift variant C/- delins 0.700 0
Edema of dorsum of foot
CUI: C2919341
Disease: Edema of dorsum of foot
2 0.925 0.120 9 134798410 frameshift variant C/- delins 0.700 0
Hyperextensible skin
CUI: C0241074
Disease: Hyperextensible skin
11 0.925 0.120 9 134798410 frameshift variant C/- delins 0.700 0
Increased tendency to bruise
CUI: C0423798
Disease: Increased tendency to bruise
14 0.925 0.120 9 134798410 frameshift variant C/- delins 0.700 0
Joint hyperflexibility
CUI: C3553764
Disease: Joint hyperflexibility
12 0.925 0.120 9 134798410 frameshift variant C/- delins 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.925 0.120 9 134798410 frameshift variant C/- delins 0.700 0
Soft skin
CUI: C1844592
Disease: Soft skin
3 0.925 0.120 9 134798410 frameshift variant C/- delins 0.700 0