rs111033295, GJB2

N. diseases: 4
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 0.925 0.120 13 20189217 missense variant T/A;G snv 6.0E-05 0.700 1.000 15 1999 2016
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
49 0.925 0.120 13 20189217 missense variant T/A;G snv 6.0E-05 0.700 1.000 10 2002 2016
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.925 0.120 13 20189217 missense variant T/A;G snv 6.0E-05 0.700 0
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.925 0.120 13 20189217 missense variant T/A;G snv 6.0E-05 0.700 0