rs66619856, COL1A2

N. diseases: 3
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.
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
81 0.882 0.120 7 94410278 missense variant G/A;T snv 0.700 1.000 9 1993 2018
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 0.882 0.120 7 94410278 missense variant G/A;T snv 0.700 1.000 9 1993 2018
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
67 0.882 0.120 7 94410278 missense variant G/A;T snv 0.700 0