Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587783070
rs587783070 		0.925 0.040 1 220143109 missense variant C/T snv
CUI: C4014942
Disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 		0.800 1.000 1 2014 2014
dbSNP: rs373436822
rs373436822 		1.000 0.120 1 220126827 stop gained G/A snv 4.0E-06
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587783070
rs587783070 		0.925 0.040 1 220143109 missense variant C/T snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587783070
rs587783070 		0.925 0.040 1 220143109 missense variant C/T snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs151241066
rs151241066 		1.000 0.120 1 220143003 missense variant G/A snv 2.0E-05 3.5E-05
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017