rs1165937383, GJB2

N. diseases: 3
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.
Keratitis-Ichthyosis-Deafness Syndrome
CUI: C3665333
Disease: Keratitis-Ichthyosis-Deafness Syndrome
12 0.925 0.240 13 20189540 frameshift variant -/T delins 2.1E-05 0.030 1.000 3 2004 2009
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
30 0.925 0.240 13 20189540 frameshift variant -/T delins 2.1E-05 0.030 1.000 3 2004 2009
Dermatologic disorders
CUI: C0037274
Disease: Dermatologic disorders
21 0.925 0.240 13 20189540 frameshift variant -/T delins 2.1E-05 0.010 1.000 1 2009 2009