rs61753219, PEX6

N. diseases: 64
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 1.000 8 1996 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 1.000 8 1996 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
40 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
38 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 1.000 3 2004 2013
PEROXISOME BIOGENESIS DISORDER 4B
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
35 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 1.000 3 2004 2013
Blindness
CUI: C0456909
Disease: Blindness
34 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Small hand
CUI: C0575802
Disease: Small hand
31 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Abnormality of the eye
CUI: C4316870
Disease: Abnormality of the eye
29 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Weight less than 3rd percentile
CUI: C1844806
Disease: Weight less than 3rd percentile
27 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0