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.
Xeroderma pigmentosum, group G
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
31 0.925 0.240 13 102868152 missense variant T/C snv 0.800 1.000 7 1994 2013
Cockayne Syndrome
CUI: C0009207
Disease: Cockayne Syndrome
11 0.925 0.240 13 102868152 missense variant T/C snv 0.010 1.000 1 2002 2002