rs111033405, OTOF

N. diseases: 4
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.
Deafness, Autosomal Recessive 9
CUI: C1832828
Disease: Deafness, Autosomal Recessive 9
88 0.851 0.160 2 26465753 missense variant A/G snv 4.0E-05 2.1E-05 0.700 1.000 1 2014 2014
Pendred's syndrome
CUI: C0271829
Disease: Pendred's syndrome
142 0.851 0.160 2 26465753 missense variant A/G snv 4.0E-05 2.1E-05 0.010 1.000 1 2000 2000
Profound sensorineural hearing loss
CUI: C1848641
Disease: Profound sensorineural hearing loss
4 0.851 0.160 2 26465753 missense variant A/G snv 4.0E-05 2.1E-05 0.010 1.000 1 2014 2014
Progressive sensorineural hearing impairment
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
28 0.851 0.160 2 26465753 missense variant A/G snv 4.0E-05 2.1E-05 0.010 1.000 1 2014 2014