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 2B
CUI: C2675236
Disease: Deafness, Autosomal Dominant 2B
2 0.925 0.200 1 34785309 missense variant G/A snv 6.4E-04 1.8E-04 0.800 1.000 1 1998 1998
Erythrokeratodermia variabilis
CUI: C0265961
Disease: Erythrokeratodermia variabilis
8 0.925 0.200 1 34785309 missense variant G/A snv 6.4E-04 1.8E-04 0.010 1.000 1 2005 2005
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.925 0.200 1 34785309 missense variant G/A snv 6.4E-04 1.8E-04 0.010 1.000 1 2005 2005