Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C4021945
Disease: Abnormality of globe size
Abnormality of globe size 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C1837463
Disease: Narrow face
Narrow face 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C1861324
Disease: Short philtrum
Short philtrum 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C1849667
Disease: Wide nasal base
Wide nasal base 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C1844509
Disease: Antegonial notching of mandible
Antegonial notching of mandible 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0271183
Disease: Severe myopia
Severe myopia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0016242
Disease: Vitreous floaters
Vitreous floaters 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0154856
Disease: Retinal lattice degeneration
Retinal lattice degeneration 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0085610
Disease: Sinus bradycardia
Sinus bradycardia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0233286
Disease: Frank Breech Presentation
Frank Breech Presentation 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C4023918
Disease: Short hard palate
Short hard palate 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0013132
Disease: Drooling
Drooling 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0456909
Disease: Blindness
Blindness 		A 0.700 CausalMutation CLINVAR