rs28931593, 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.
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
27 0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 0.800 1.000 7 1998 2008
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
49 0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 0.700 1.000 1 2005 2005
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
98 0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 0.700 0
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 0.700 0
Keratoderma, Palmoplantar
CUI: C4551675
Disease: Keratoderma, Palmoplantar
19 0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 0.050 1.000 5 2002 2014
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 0.020 1.000 2 2002 2014
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
66 0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 0.020 1.000 2 2005 2015
Hyperkeratosis
CUI: C0870082
Disease: Hyperkeratosis
19 0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 0.010 1 2005 2005
Keratosis
CUI: C0022593
Disease: Keratosis
10 0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 0.010 1 2005 2005