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.
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
CUI: C4551486
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
5 0.925 0.080 1 34784863 missense variant T/C snv 0.700 0
Erythrokeratodermia variabilis
CUI: C0265961
Disease: Erythrokeratodermia variabilis
8 0.925 0.080 1 34784863 missense variant T/C snv 0.010 1.000 1 2005 2005
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.925 0.080 1 34784863 missense variant T/C snv 0.010 1.000 1 2005 2005