rs104894413, GJB2

N. diseases: 9
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 DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
49 0.776 0.280 13 20189451 stop gained C/G;T snv 2.4E-05 0.800 1.000 7 1998 2009
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
98 0.776 0.280 13 20189451 stop gained C/G;T snv 2.4E-05 0.700 1.000 9 1999 2016
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
20 0.776 0.280 13 20189451 stop gained C/G;T snv 2.4E-05 0.700 0
Knuckle pads, leuconychia and sensorineural deafness
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
21 0.776 0.280 13 20189451 stop gained C/G;T snv 2.4E-05 0.700 0
Mutilating keratoderma
CUI: C0265964
Disease: Mutilating keratoderma
24 0.776 0.280 13 20189451 stop gained C/G;T snv 2.4E-05 0.700 0
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
27 0.776 0.280 13 20189451 stop gained C/G;T snv 2.4E-05 0.700 0
Progressive hearing loss stapes fixation
CUI: C1844678
Disease: Progressive hearing loss stapes fixation
35 0.776 0.280 13 20189451 stop gained C/G;T snv 2.4E-05 0.700 0
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
30 0.776 0.280 13 20189451 stop gained C/G;T snv 2.4E-05 0.700 0
Dermatologic disorders
CUI: C0037274
Disease: Dermatologic disorders
21 0.776 0.280 13 20189451 stop gained C/G;T snv 2.4E-05 0.010 1.000 1 2003 2003