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.
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
Cholestasis
CUI: C0008370
Disease: Cholestasis
15 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.010 1.000 1 2014 2014
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
35 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.010 1.000 1 2014 2014
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.010 1.000 1 2014 2014
Liver diseases
CUI: C0023895
Disease: Liver diseases
100 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.010 1.000 1 2019 2019
Retinal Diseases
CUI: C0035309
Disease: Retinal Diseases
56 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.010 1.000 1 2019 2019
Peroxisome biogenesis disorders
CUI: C1832200
Disease: Peroxisome biogenesis disorders
38 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 1.000 2 1997 2016
Zellweger Spectrum Disorder
CUI: C4687396
Disease: Zellweger Spectrum Disorder
1 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.030 1.000 3 2014 2019
HEIMLER SYNDROME 1
CUI: C4551980
Disease: HEIMLER SYNDROME 1
12 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 1.000 9 1997 2016