rs66527965, COL1A1

N. diseases: 31
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.
Abnormality of the pinna
CUI: C0857379
Disease: Abnormality of the pinna
9 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Asphyxia Neonatorum
CUI: C0004045
Disease: Asphyxia Neonatorum
5 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Blue sclera
CUI: C0542514
Disease: Blue sclera
13 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Bowing of limbs due to multiple fractures
CUI: C1850178
Disease: Bowing of limbs due to multiple fractures
1 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Broad forehead
CUI: C1849089
Disease: Broad forehead
13 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Cranial asymmetry
CUI: C1860245
Disease: Cranial asymmetry
3 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Craniofacial disproportion
CUI: C1867114
Disease: Craniofacial disproportion
5 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Crumpled long bones
CUI: C1970497
Disease: Crumpled long bones
1 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Decreased calvarial ossification
CUI: C1833762
Disease: Decreased calvarial ossification
1 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Flat occiput
CUI: C1837402
Disease: Flat occiput
6 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Fractures of the long bones
CUI: C0240231
Disease: Fractures of the long bones
1 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Low-set, posteriorly rotated ears
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
19 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Maternal hypertension
CUI: C0565599
Disease: Maternal hypertension
22 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Neonatal short-limb short stature
CUI: C1850171
Disease: Neonatal short-limb short stature
1 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
67 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Osteogenesis imperfecta type IV (disorder)
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
65 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Osteogenesis imperfecta, recessive perinatal lethal
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
51 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
OSTEOGENESIS IMPERFECTA, TYPE III/IV
CUI: C4015948
Disease: OSTEOGENESIS IMPERFECTA, TYPE III/IV
1 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
Pathological fracture
CUI: C0016663
Disease: Pathological fracture
2 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0