rs28929485, 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.
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
30 0.807 0.320 13 20189532 missense variant G/A;C snv 0.810 1.000 1 2004 2004
Congenital ichthyosis
CUI: C0020758
Disease: Congenital ichthyosis
11 0.807 0.320 13 20189532 missense variant G/A;C snv 0.010 1.000 1 2017 2017
Ichthyoses
CUI: C0020757
Disease: Ichthyoses
18 0.807 0.320 13 20189532 missense variant G/A;C snv 0.010 1.000 1 2017 2017
Keratitis
CUI: C0022568
Disease: Keratitis
10 0.807 0.320 13 20189532 missense variant G/A;C snv 0.010 1.000 1 2017 2017
Keratitis-Ichthyosis-Deafness Syndrome
CUI: C3665333
Disease: Keratitis-Ichthyosis-Deafness Syndrome
12 0.807 0.320 13 20189532 missense variant G/A;C snv 0.010 1.000 1 2004 2004
Skin Abnormalities
CUI: C0037268
Disease: Skin Abnormalities
16 0.807 0.320 13 20189532 missense variant G/A;C snv 0.010 1.000 1 2017 2017
Tongue Carcinoma
CUI: C0558353
Disease: Tongue Carcinoma
2 0.807 0.320 13 20189532 missense variant G/A;C snv 0.010 1.000 1 2007 2007