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.
Abnormality of corneal thickness
CUI: C4023333
Disease: Abnormality of corneal thickness
2 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Areflexia of upper limbs
CUI: C2674177
Disease: Areflexia of upper limbs
2 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Contracture of hamstring(s)
CUI: C0410266
Disease: Contracture of hamstring(s)
2 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Decreased CSF 5-hydroxyindolacetic acid
CUI: C4476788
Disease: Decreased CSF 5-hydroxyindolacetic acid
2 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Marked delay in bone age
CUI: C1868549
Disease: Marked delay in bone age
2 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Profound sensorineural hearing impairment
CUI: C4023338
Disease: Profound sensorineural hearing impairment
2 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Slender build
CUI: C1850573
Disease: Slender build
2 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Decreased body mass index
CUI: C0231255
Disease: Decreased body mass index
3 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Abnormal cornea morphology
CUI: C1855670
Disease: Abnormal cornea morphology
4 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Abnormality of the optic disc
CUI: C3808249
Disease: Abnormality of the optic disc
4 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Areflexia of lower limbs
CUI: C1856694
Disease: Areflexia of lower limbs
4 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Oval face
CUI: C1849025
Disease: Oval face
4 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Severe failure to thrive
CUI: C1855514
Disease: Severe failure to thrive
4 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Coxa valga
CUI: C0239137
Disease: Coxa valga
5 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Craniofacial disproportion
CUI: C1867114
Disease: Craniofacial disproportion
5 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Increased susceptibility to fractures
CUI: C1390474
Disease: Increased susceptibility to fractures
5 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Thoracic scoliosis
CUI: C1857790
Disease: Thoracic scoliosis
5 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Cerebral dysmyelination
CUI: C1854885
Disease: Cerebral dysmyelination
6 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Flat face
CUI: C1853241
Disease: Flat face
7 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Abnormal retinal morphology
CUI: C0035300
Disease: Abnormal retinal morphology
8 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Elevated hepatic transaminase
CUI: C1848701
Disease: Elevated hepatic transaminase
9 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Abnormality of the cerebellum
CUI: C1866129
Disease: Abnormality of the cerebellum
11 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Abnormality of the optic nerve
CUI: C0029131
Disease: Abnormality of the optic nerve
11 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Bilateral microphthalmos
CUI: C1843496
Disease: Bilateral microphthalmos
11 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Proportionate short stature
CUI: C0878660
Disease: Proportionate short stature
11 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0