rs1064797088, GJB2

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.
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
49 0.925 0.120 13 20189446 missense variant C/T snv 0.700 0
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
66 0.925 0.120 13 20189446 missense variant C/T snv 0.010 1.000 1 2011 2011