rs104894403, GJB2

N. diseases: 7
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.
Mutilating keratoderma
CUI: C0265964
Disease: Mutilating keratoderma
24 0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06 0.830 1.000 6 1999 2010
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 1 1999 1999
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
27 0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 7 1998 2008
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06 0.700 0
Dermatologic disorders
CUI: C0037274
Disease: Dermatologic disorders
21 0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2000 2000
Keratoderma, Palmoplantar
CUI: C4551675
Disease: Keratoderma, Palmoplantar
19 0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2000 2000
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
169 0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06 0.010 1 2006 2006