rs104894408, GJB2

N. diseases: 13
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.
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
30 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.850 1.000 8 2002 2018
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
98 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.700 1.000 6 2004 2015
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
49 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.700 1.000 5 2004 2015
Deafness, Autosomal Recessive 1b
CUI: C2675235
Disease: Deafness, Autosomal Recessive 1b
16 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.700 0
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.700 0
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
20 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.700 0
Knuckle pads, leuconychia and sensorineural deafness
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
21 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.700 0
Mutilating keratoderma
CUI: C0265964
Disease: Mutilating keratoderma
24 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.700 0
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
27 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.700 0
Progressive hearing loss stapes fixation
CUI: C1844678
Disease: Progressive hearing loss stapes fixation
35 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.700 0
Keratitis-Ichthyosis-Deafness Syndrome
CUI: C3665333
Disease: Keratitis-Ichthyosis-Deafness Syndrome
12 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.050 1.000 5 2004 2018
Hidrotic Ectodermal Dysplasia
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
7 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.010 1.000 1 2015 2015