rs767178508, 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)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
49 0.851 0.120 13 20189143 missense variant C/T snv 1.2E-05 4.2E-05 0.700 1.000 3 2004 2010
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
98 0.851 0.120 13 20189143 missense variant C/T snv 1.2E-05 4.2E-05 0.700 1.000 3 2004 2010
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.851 0.120 13 20189143 missense variant C/T snv 1.2E-05 4.2E-05 0.700 0
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.851 0.120 13 20189143 missense variant C/T snv 1.2E-05 4.2E-05 0.010 1.000 1 2004 2004
Recessive sensorineural hearing loss
CUI: C0395973
Disease: Recessive sensorineural hearing loss
1 0.851 0.120 13 20189143 missense variant C/T snv 1.2E-05 4.2E-05 0.010 1.000 1 2004 2004