rs67682641, COL1A1

N. diseases: 6
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.
Osteogenesis imperfecta type III (disorder)
67 0.807 0.240 17 50194375 missense variant C/A;T snv 0.700 0
Osteogenesis imperfecta type IV (disorder)
65 0.807 0.240 17 50194375 missense variant C/A;T snv 0.700 0
Osteogenesis imperfecta, dominant perinatal lethal
93 0.807 0.240 17 50194375 missense variant C/A;T snv 0.700 0
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 0.807 0.240 17 50194375 missense variant C/A;T snv 0.700 1.000 7 1992 2016
Ehlers-Danlos Syndrome
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
14 0.807 0.240 17 50194375 missense variant C/A;T snv 0.010 1.000 1 2002 2002
Hypodontia
CUI: C0020608
Disease: Hypodontia
48 0.807 0.240 17 50194375 missense variant C/A;T snv 0.010 1.000 1 2012 2012