rs104894406, 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 0.200 13 20188977 missense variant C/A snv 0.800 1.000 7 1998 2009
Keratoderma, Palmoplantar
CUI: C4551675
Disease: Keratoderma, Palmoplantar
19 0.925 0.200 13 20188977 missense variant C/A snv 0.020 1.000 2 2010 2011