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
|
337 | 0.708 | 0.440 | 13 | 20189473 | missense variant | C/A;T | snv | 7.7E-03 | 0.800 | 0.900 | 10 | 2004 | 2017 | |||||
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
|
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
|
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
|
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
|
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
|
80 | 0.708 | 0.440 | 13 | 20189473 | missense variant | C/A;T | snv | 7.7E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
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
|
16 | 0.708 | 0.440 | 13 | 20189473 | missense variant | C/A;T | snv | 7.7E-03 | 0.700 | 0 | ||||||||
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
|
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
|
30 | 0.708 | 0.440 | 13 | 20189473 | missense variant | C/A;T | snv | 7.7E-03 | 0.700 | 0 |