rs587783070, IARS2

N. diseases: 3
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.
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
CUI: C4014942
Disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
1 0.925 0.040 1 220143109 missense variant C/T snv 0.800 1.000 1 2014 2014
Cataract
CUI: C0086543
Disease: Cataract
124 0.925 0.040 1 220143109 missense variant C/T snv 0.700 1.000 1 2014 2014
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.925 0.040 1 220143109 missense variant C/T snv 0.700 1.000 1 2014 2014