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
CUI: C0043346
Disease: Xeroderma Pigmentosum
35 0.925 0.160 13 102872397 stop gained G/A;T snv 8.0E-06; 8.0E-06 0.700 1.000 1 1994 1994
Xeroderma pigmentosum, group G
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
31 0.925 0.160 13 102872397 stop gained G/A;T snv 8.0E-06; 8.0E-06 0.700 0