Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C0271055
Disease: Rhegmatogenous retinal detachment
Rhegmatogenous retinal detachment 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C4023357
Disease: Maternal teratogenic exposure
Maternal teratogenic exposure 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C4023918
Disease: Short hard palate
Short hard palate 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C4316811
Disease: Abnormality of the nasal septum
Abnormality of the nasal septum 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C1849667
Disease: Wide nasal base
Wide nasal base 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C0154856
Disease: Retinal lattice degeneration
Retinal lattice degeneration 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C0020581
Disease: Hyphema
Hyphema 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C0085610
Disease: Sinus bradycardia
Sinus bradycardia 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C1844509
Disease: Antegonial notching of mandible
Antegonial notching of mandible 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C1867114
Disease: Craniofacial disproportion
Craniofacial disproportion 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C0016242
Disease: Vitreous floaters
Vitreous floaters 		0.700 0