rs80338939, GJB2

N. diseases: 14
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)
98 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 1.000 35 1997 2014
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
49 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 1.000 7 1997 2007
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
20 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 1.000 7 1997 2007
Knuckle pads, leuconychia and sensorineural deafness
21 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 1.000 7 1997 2007
Mutilating keratoderma
CUI: C0265964
Disease: Mutilating keratoderma
24 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 1.000 7 1997 2007
Palmoplantar Keratoderma with Deafness
27 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 1.000 7 1997 2007
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
30 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 1.000 7 1997 2007
Conductive hearing loss, bilateral
CUI: C0452136
Disease: Conductive hearing loss, bilateral
3 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 0
Deafness, Autosomal Recessive 1b
CUI: C2675235
Disease: Deafness, Autosomal Recessive 1b
16 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 0
DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)
1 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 0
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 0
Sensorineural hearing loss, bilateral
30 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 0
Severe sensorineural hearing impairment
5 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 0