rs587783647, GJB2

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.
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
98 0.925 0.120 13 20188932 frameshift variant TCTA/- delins 4.8E-05 2.1E-05 0.700 1.000 4 2000 2014
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
49 0.925 0.120 13 20188932 frameshift variant TCTA/- delins 4.8E-05 2.1E-05 0.700 1.000 3 2000 2014
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.925 0.120 13 20188932 frameshift variant TCTA/- delins 4.8E-05 2.1E-05 0.700 0