rs80338948, 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 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.800 1.000 20 1998 2015
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.720 1.000 2 2005 2019
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
49 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.700 0
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.700 0
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
20 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.700 0
Knuckle pads, leuconychia and sensorineural deafness
21 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.700 0
Mutilating keratoderma
CUI: C0265964
Disease: Mutilating keratoderma
24 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.700 0
Palmoplantar Keratoderma with Deafness
27 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.700 0
Progressive hearing loss stapes fixation
35 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.700 0
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
30 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.700 0
Sensorineural Hearing Loss (disorder)
111 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.010 1.000 1 2003 2003
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
169 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.010 1.000 1 2007 2007