rs28931594, 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.
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
30 0.790 0.280 13 20189434 missense variant C/A;T snv 0.880 1.000 10 2002 2019
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
20 0.790 0.280 13 20189434 missense variant C/A;T snv 0.800 1.000 1 2002 2002
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.790 0.280 13 20189434 missense variant C/A;T snv 0.700 0
Keratitis-Ichthyosis-Deafness Syndrome
CUI: C3665333
Disease: Keratitis-Ichthyosis-Deafness Syndrome
12 0.790 0.280 13 20189434 missense variant C/A;T snv 0.080 1.000 8 2003 2019
Conductive hearing loss
CUI: C0018777
Disease: Conductive hearing loss
5 0.790 0.280 13 20189434 missense variant C/A;T snv 0.010 1.000 1 2008 2008
Congenital deafness
CUI: C0339789
Disease: Congenital deafness
11 0.790 0.280 13 20189434 missense variant C/A;T snv 0.010 1.000 1 2016 2016
Dandy-Walker Syndrome
CUI: C0010964
Disease: Dandy-Walker Syndrome
9 0.790 0.280 13 20189434 missense variant C/A;T snv 0.010 1.000 1 2009 2009
Immunologic Deficiency Syndromes
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
31 0.790 0.280 13 20189434 missense variant C/A;T snv 0.010 1.000 1 2018 2018
Keratitis
CUI: C0022568
Disease: Keratitis
10 0.790 0.280 13 20189434 missense variant C/A;T snv 0.010 1.000 1 2013 2013