rs1565679039, COL2A1

N. diseases: 45
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.
Abnormal chorioretinal morphology
CUI: C4025844
Disease: Abnormal chorioretinal morphology
1 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Abnormality of globe size
CUI: C4021945
Disease: Abnormality of globe size
1 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Abnormality of the nasal septum
CUI: C4316811
Disease: Abnormality of the nasal septum
1 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Allergic rhinitis (disorder)
CUI: C2607914
Disease: Allergic rhinitis (disorder)
176 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
amniotic fluid meconium stained
CUI: C0426209
Disease: amniotic fluid meconium stained
4 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Antegonial notching of mandible
CUI: C1844509
Disease: Antegonial notching of mandible
1 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Blindness
CUI: C0456909
Disease: Blindness
34 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Bulbous nose
CUI: C0240543
Disease: Bulbous nose
13 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Clinodactyly
CUI: C4551485
Disease: Clinodactyly
18 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Craniofacial disproportion
CUI: C1867114
Disease: Craniofacial disproportion
5 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Drooling
CUI: C0013132
Disease: Drooling
14 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Frank Breech Presentation
CUI: C0233286
Disease: Frank Breech Presentation
1 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
21 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Hyperextensibility at elbow
CUI: C4023808
Disease: Hyperextensibility at elbow
7 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Hyphema
CUI: C0020581
Disease: Hyphema
1 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Low-set, posteriorly rotated ears
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
19 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Malocclusion
CUI: C0024636
Disease: Malocclusion
10 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Maternal teratogenic exposure
CUI: C4023357
Disease: Maternal teratogenic exposure
1 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Narrow face
CUI: C1837463
Disease: Narrow face
6 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Narrow forehead
CUI: C1839758
Disease: Narrow forehead
20 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Open mouth (finding)
CUI: C0240379
Disease: Open mouth (finding)
11 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
Primary Caesarian section
CUI: C4072903
Disease: Primary Caesarian section
15 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0