rs80338942, 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 0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04 0.700 1.000 6 1997 2015
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
49 0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04 0.700 1.000 1 2007 2007
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
20 0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04 0.700 1.000 1 2007 2007
Knuckle pads, leuconychia and sensorineural deafness
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
21 0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04 0.700 1.000 1 2007 2007
Mutilating keratoderma
CUI: C0265964
Disease: Mutilating keratoderma
24 0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04 0.700 1.000 1 2007 2007
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
27 0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04 0.700 1.000 1 2007 2007
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
30 0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04 0.700 1.000 1 2007 2007
Deafness, Autosomal Recessive 1b
CUI: C2675235
Disease: Deafness, Autosomal Recessive 1b
16 0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04 0.700 0
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04 0.700 0