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: C0024636
Disease: Malocclusion
Malocclusion 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0271055
Disease: Rhegmatogenous retinal detachment
Rhegmatogenous retinal detachment 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C3494422
Disease: Retrognathia
Retrognathia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C4023357
Disease: Maternal teratogenic exposure
Maternal teratogenic exposure 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0042454
Disease: Velopharyngeal Insufficiency
Velopharyngeal Insufficiency 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C4316811
Disease: Abnormality of the nasal septum
Abnormality of the nasal septum 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C2673410
Disease: Small midface
Small midface 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C1867114
Disease: Craniofacial disproportion
Craniofacial disproportion 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0020581
Disease: Hyphema
Hyphema 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		A 0.700 CausalMutation CLINVAR