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.
Infantile Refsum Disease (disorder)
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
59 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.810 1.000 12 1997 2016
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
99 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.800 1.000 20 1997 2016
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
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
Absent brainstem auditory responses
CUI: C1836742
Disease: Absent brainstem auditory responses
1 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Chronic constipation
CUI: C0401149
Disease: Chronic constipation
16 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Cystoid macular retinal degeneration
CUI: C0154850
Disease: Cystoid macular retinal degeneration
1 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Elevated levels of phytanic acid
CUI: C4023786
Disease: Elevated levels of phytanic acid
1 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Exotropia
CUI: C0015310
Disease: Exotropia
23 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Facial hypotonia
CUI: C1845251
Disease: Facial hypotonia
6 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Generalized joint laxity
CUI: C1836308
Disease: Generalized joint laxity
6 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Gross motor impairment
CUI: C0556280
Disease: Gross motor impairment
2 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Hyperextensibility at elbow
CUI: C4023808
Disease: Hyperextensibility at elbow
7 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Hyperopia
CUI: C0020490
Disease: Hyperopia
29 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Hyperoxaluria
CUI: C0020500
Disease: Hyperoxaluria
3 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
Hypoplasia of the optic nerve
CUI: C0338502
Disease: Hypoplasia of the optic nerve
14 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
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