rs1010184002, PEX6

N. diseases: 60
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.
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
21 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Increased susceptibility to fractures
CUI: C1390474
Disease: Increased susceptibility to fractures
5 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Joint hyperflexibility
CUI: C3553764
Disease: Joint hyperflexibility
12 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
24 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Long narrow head
CUI: C0221358
Disease: Long narrow head
26 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Marked delay in bone age
CUI: C1868549
Disease: Marked delay in bone age
2 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
40 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Oval face
CUI: C1849025
Disease: Oval face
4 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Profound sensorineural hearing impairment
CUI: C4023338
Disease: Profound sensorineural hearing impairment
2 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Progressive sensorineural hearing impairment
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
28 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
25 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Proportionate short stature
CUI: C0878660
Disease: Proportionate short stature
11 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Secondary microcephaly
CUI: C0431352
Disease: Secondary microcephaly
20 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Seizures, Focal
CUI: C0751495
Disease: Seizures, Focal
15 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Severe failure to thrive
CUI: C1855514
Disease: Severe failure to thrive
4 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0