rs67543427, COL1A2

N. diseases: 8
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.
EDS VIIB
CUI: C1851801
Disease: EDS VIIB
7 0.776 0.240 7 94410457 missense variant G/A;T snv 0.700 0
Ehlers-Danlos syndrome cardiac valvular type
CUI: C4303789
Disease: Ehlers-Danlos syndrome cardiac valvular type
3 0.776 0.240 7 94410457 missense variant G/A;T snv 0.700 0
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
81 0.776 0.240 7 94410457 missense variant G/A;T snv 0.700 1.000 5 1993 2009
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 0.776 0.240 7 94410457 missense variant G/A;T snv 0.700 1.000 5 1993 2009
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
67 0.776 0.240 7 94410457 missense variant G/A;T snv 0.700 0
Osteogenesis imperfecta type IV (disorder)
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
65 0.776 0.240 7 94410457 missense variant G/A;T snv 0.700 0
Osteogenesis imperfecta, recessive perinatal lethal
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
51 0.776 0.240 7 94410457 missense variant G/A;T snv 0.700 0
Osteoporosis, Postmenopausal
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
38 0.776 0.240 7 94410457 missense variant G/A;T snv 0.700 0