rs397516873, GJB2

N. diseases: 2
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.
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
49 0.925 0.120 13 20189514 frameshift variant ATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC/- del 2.0E-05 1.4E-05 0.700 1.000 2 2005 2011
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
98 0.925 0.120 13 20189514 frameshift variant ATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC/- del 2.0E-05 1.4E-05 0.700 1.000 2 2005 2011