rs80338950, GJB2

N. diseases: 12
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 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.800 1.000 27 1997 2015
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
49 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.800 1.000 7 1998 2009
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.730 0.667 3 2010 2017
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.700 0
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
20 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.700 0
Knuckle pads, leuconychia and sensorineural deafness
21 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.700 0
Mutilating keratoderma
CUI: C0265964
Disease: Mutilating keratoderma
24 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.700 0
Palmoplantar Keratoderma with Deafness
27 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.700 0
Progressive hearing loss stapes fixation
35 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.700 0
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
30 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.700 0
Keratoderma, Palmoplantar
CUI: C4551675
Disease: Keratoderma, Palmoplantar
19 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.020 1.000 2 2010 2011
Sensorineural hearing loss, bilateral
30 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.010 1.000 1 2011 2011