rs61750420, PEX1

N. diseases: 52
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.
Induced vaginal delivery
CUI: C4072908
Disease: Induced vaginal delivery
10 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Macular retinal edema
CUI: C0271051
Disease: Macular retinal edema
3 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Malar flattening
CUI: C1858085
Disease: Malar flattening
12 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Maternal hypertension
CUI: C0565599
Disease: Maternal hypertension
22 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Mitral Valve Insufficiency
CUI: C0026266
Disease: Mitral Valve Insufficiency
11 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
obsolete Peripheral retinopathy
CUI: C4072867
Disease: obsolete Peripheral retinopathy
5 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Peroxisomal Disorders
CUI: C0282528
Disease: Peroxisomal Disorders
1 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Poor suck
CUI: C1837142
Disease: Poor suck
31 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Progressive night blindness
CUI: C4024818
Disease: Progressive night blindness
3 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Progressive sensorineural hearing impairment
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
28 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Progressive visual loss
CUI: C1839364
Disease: Progressive visual loss
11 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Prolonged neonatal jaundice
CUI: C1859236
Disease: Prolonged neonatal jaundice
14 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Reduced fetal movement
CUI: C0235659
Disease: Reduced fetal movement
17 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Ridged cranial sutures
CUI: C4023692
Disease: Ridged cranial sutures
1 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Sacral dimple
CUI: C0426848
Disease: Sacral dimple
11 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Short palpebral fissure
CUI: C0423112
Disease: Short palpebral fissure
16 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Short philtrum
CUI: C1861324
Disease: Short philtrum
25 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Single transverse palmar crease
CUI: C0424731
Disease: Single transverse palmar crease
14 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Soft skin
CUI: C1844592
Disease: Soft skin
3 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Speech articulation difficulties
CUI: C1865313
Disease: Speech articulation difficulties
3 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Tooth Crowding
CUI: C0040433
Disease: Tooth Crowding
19 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Vertical Nystagmus
CUI: C0271386
Disease: Vertical Nystagmus
2 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Widely patent sagittal suture
CUI: C1856779
Disease: Widely patent sagittal suture
1 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0