rs72645357, COL1A1

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.
Cortical Congenital Hyperostosis
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
10 0.776 0.240 17 50196163 missense variant C/T snv 0.700 0
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
16 0.776 0.240 17 50196163 missense variant C/T snv 0.700 0
Osteogenesis Imperfecta
CUI: C0029434
Disease: Osteogenesis Imperfecta
91 0.776 0.240 17 50196163 missense variant C/T snv 0.700 0
Osteogenesis imperfecta, recessive perinatal lethal
51 0.776 0.240 17 50196163 missense variant C/T snv 0.700 0
Osteoporosis, Postmenopausal
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
38 0.776 0.240 17 50196163 missense variant C/T snv 0.700 0
Osteogenesis imperfecta type IV (disorder)
65 0.776 0.240 17 50196163 missense variant C/T snv 0.700 1.000 1 2015 2015
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 0.776 0.240 17 50196163 missense variant C/T snv 0.700 1.000 8 1991 2015
Osteogenesis imperfecta type III (disorder)
67 0.776 0.240 17 50196163 missense variant C/T snv 0.800 1.000 15 1989 2008