rs104894402, GJB2

N. diseases: 5
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)
49 0.882 0.200 13 20189359 missense variant G/A;C snv 0.800 1.000 9 1998 2009
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.882 0.200 13 20189359 missense variant G/A;C snv 0.720 1.000 2 2000 2001
Palmoplantar Keratoderma with Deafness
27 0.882 0.200 13 20189359 missense variant G/A;C snv 0.700 1.000 7 1998 2008
Keratoderma, Palmoplantar
CUI: C4551675
Disease: Keratoderma, Palmoplantar
19 0.882 0.200 13 20189359 missense variant G/A;C snv 0.050 1.000 5 2002 2011
Dermatologic disorders
CUI: C0037274
Disease: Dermatologic disorders
21 0.882 0.200 13 20189359 missense variant G/A;C snv 0.010 1.000 1 2003 2003