rs72653170, COL1A1

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.
Cortical Congenital Hyperostosis
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
10 0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06 0.850 1.000 6 2005 2014
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06 0.700 1.000 5 2005 2014
Cortical hyperostosis
CUI: C1394142
Disease: Cortical hyperostosis
1 0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06 0.010 1.000 1 2014 2014
Ehlers-Danlos Syndrome
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
14 0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06 0.010 1.000 1 2007 2007
PRENATAL CORTICAL HYPEROSTOSIS, LETHAL (disorder)
1 0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06 0.010 1.000 1 2008 2008
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
16 0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06 0.700 0
Osteogenesis imperfecta type III (disorder)
67 0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06 0.700 0
Osteogenesis imperfecta type IV (disorder)
65 0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06 0.700 0
Osteogenesis imperfecta, recessive perinatal lethal
51 0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06 0.700 0
Osteoporosis, Postmenopausal
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
38 0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06 0.700 0