rs66490707, COL1A1

N. diseases: 7
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 0.790 0.240 17 50195231 splice donor variant C/G;T snv 0.700 0
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
16 0.790 0.240 17 50195231 splice donor variant C/G;T snv 0.700 0
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 0.790 0.240 17 50195231 splice donor variant C/G;T snv 0.700 1.000 10 1994 2017
Osteogenesis imperfecta type III (disorder)
67 0.790 0.240 17 50195231 splice donor variant C/G;T snv 0.700 0
Osteogenesis imperfecta type IV (disorder)
65 0.790 0.240 17 50195231 splice donor variant C/G;T snv 0.700 0
Osteogenesis imperfecta, recessive perinatal lethal
51 0.790 0.240 17 50195231 splice donor variant C/G;T snv 0.700 0
Osteoporosis, Postmenopausal
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
38 0.790 0.240 17 50195231 splice donor variant C/G;T snv 0.700 0