rs1060501002, GJB1

N. diseases: 2
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.
Charcot-Marie-Tooth disease, X-linked, 1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
82 1.000 0.080 X 71223772 missense variant G/A snv 0.810 1.000 1 2001 2001
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 1.000 0.080 X 71223772 missense variant G/A snv 0.010 1.000 1 2001 2001