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: 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: C4021945
Disease: Abnormality of globe size
Abnormality of globe size 		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: 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: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		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: C0240543
Disease: Bulbous nose
Bulbous nose 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		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: 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: C0013132
Disease: Drooling
Drooling 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C0233286
Disease: Frank Breech Presentation
Frank Breech Presentation 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		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: C0020581
Disease: Hyphema
Hyphema 		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: C0024636
Disease: Malocclusion
Malocclusion 		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: C0025990
Disease: Micrognathism
Micrognathism 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C1837463
Disease: Narrow face
Narrow face 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		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: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		0.700 0