rs72474224, GJB2

N. diseases: 18
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 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.800 1.000 28 1998 2016
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.800 0.900 10 2004 2017
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
49 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.700 0
Deafness, Autosomal Recessive 1b
CUI: C2675235
Disease: Deafness, Autosomal Recessive 1b
16 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.700 0
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.700 0
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
20 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.700 0
Knuckle pads, leuconychia and sensorineural deafness
21 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.700 0
Mutilating keratoderma
CUI: C0265964
Disease: Mutilating keratoderma
24 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.700 0
Palmoplantar Keratoderma with Deafness
27 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.700 0
Progressive hearing loss stapes fixation
35 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.700 0
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
30 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.700 0
Sensorineural Hearing Loss (disorder)
111 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.050 1.000 5 2002 2013
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
66 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.020 1.000 2 2015 2019
Congenital deafness
CUI: C0339789
Disease: Congenital deafness
11 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.010 1.000 1 2016 2016
Deafness, Sudden
CUI: C1148477
Disease: Deafness, Sudden
2 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.010 1.000 1 2016 2016
Nodular Sclerosis Classical Hodgkin Lymphoma
22 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.010 1.000 1 2019 2019
Psoriasis
CUI: C0033860
Disease: Psoriasis
705 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.010 1.000 1 2015 2015
Psoriasis vulgaris
CUI: C0263361
Disease: Psoriasis vulgaris
80 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.010 1.000 1 2015 2015