rs104894397, 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 0.882 0.120 13 20189353 missense variant A/G snv 4.0E-05 1.1E-04 0.800 1.000 14 1997 2012
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
49 0.882 0.120 13 20189353 missense variant A/G snv 4.0E-05 1.1E-04 0.700 0
Deafness, Autosomal Recessive 1b
CUI: C2675235
Disease: Deafness, Autosomal Recessive 1b
16 0.882 0.120 13 20189353 missense variant A/G snv 4.0E-05 1.1E-04 0.700 0