rs781939614, PEX11B

N. diseases: 11
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.
Abnormal ocular motility
CUI: C0497202
Disease: Abnormal ocular motility
6 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 0.700 0
Cerebral dysmyelination
CUI: C1854885
Disease: Cerebral dysmyelination
6 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 0.700 0
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
104 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 0.700 0
Decreased testosterone in males
CUI: C1860121
Disease: Decreased testosterone in males
3 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 0.700 0
Ophthalmoplegia
CUI: C0029089
Disease: Ophthalmoplegia
12 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 0.700 0
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 0.700 0
PEROXISOME BIOGENESIS DISORDER 14B
CUI: C3554055
Disease: PEROXISOME BIOGENESIS DISORDER 14B
2 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 0.700 0
Sleep Apnea Syndromes
CUI: C0037315
Disease: Sleep Apnea Syndromes
18 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 0.700 0
Tremor
CUI: C0040822
Disease: Tremor
52 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 0.700 0