rs111033299, GJB2

N. diseases: 10
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)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
98 0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 0.800 1.000 17 1998 2009
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
49 0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 0.700 0
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
20 0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 0.700 0
Knuckle pads, leuconychia and sensorineural deafness
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
21 0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 0.700 0
Mutilating keratoderma
CUI: C0265964
Disease: Mutilating keratoderma
24 0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 0.700 0
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
27 0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 0.700 0
Progressive hearing loss stapes fixation
CUI: C1844678
Disease: Progressive hearing loss stapes fixation
35 0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 0.700 0
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
30 0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 0.700 0
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 0.010 1.000 1 2003 2003