Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs781939614
rs781939614
PEX11B
0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs781939614
rs781939614
PEX11B
0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06
CUI: C0042798
Disease: Low Vision
Low Vision 		0.700 0
dbSNP: rs781939614
rs781939614
PEX11B
0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06
CUI: C1854885
Disease: Cerebral dysmyelination
Cerebral dysmyelination 		0.700 0
dbSNP: rs781939614
rs781939614
PEX11B
0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06
CUI: C1860121
Disease: Decreased testosterone in males
Decreased testosterone in males 		0.700 0
dbSNP: rs781939614
rs781939614
PEX11B
0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs781939614
rs781939614
PEX11B
0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.700 0
dbSNP: rs781939614
rs781939614
PEX11B
0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06
CUI: C3554055
Disease: PEROXISOME BIOGENESIS DISORDER 14B
PEROXISOME BIOGENESIS DISORDER 14B 		0.700 0
dbSNP: rs781939614
rs781939614
PEX11B
0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06
CUI: C0040822
Disease: Tremor
Tremor 		0.700 0
dbSNP: rs781939614
rs781939614
PEX11B
0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		0.700 0
dbSNP: rs781939614
rs781939614
PEX11B
0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		0.700 0
dbSNP: rs781939614
rs781939614
PEX11B
0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 0