rs104894401, 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 DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
49 0.851 0.120 13 20189154 missense variant C/T snv 0.800 1.000 18 1998 2015
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
98 0.851 0.120 13 20189154 missense variant C/T snv 0.700 1.000 14 2001 2015
Hearing Loss, High-Frequency
CUI: C0018780
Disease: Hearing Loss, High-Frequency
8 0.851 0.120 13 20189154 missense variant C/T snv 0.010 1.000 1 2001 2001
Sensorineural hearing loss, bilateral
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
30 0.851 0.120 13 20189154 missense variant C/T snv 0.010 1.000 1 2013 2013