rs35887622, GJB2

N. diseases: 8
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.
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.740 0.833 6 2001 2012
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
98 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.700 1.000 27 1997 2016
Deafness, Autosomal Recessive 1b
CUI: C2675235
Disease: Deafness, Autosomal Recessive 1b
16 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.700 0
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
66 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.040 1.000 4 1998 2019
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.040 0.750 4 2000 2012
Auditory neuropathy
CUI: C1852271
Disease: Auditory neuropathy
20 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.010 1.000 1 2008 2008
Auditory neuropathy spectrum disorder
CUI: C2732267
Disease: Auditory neuropathy spectrum disorder
17 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.010 1.000 1 2008 2008
Congenital deafness
CUI: C0339789
Disease: Congenital deafness
11 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.010 1.000 1 2006 2006