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 102852244 missense variant C/A;T snv 4.0E-06 0.700 1.000 7 1994 2013
Xeroderma Pigmentosum, Type G-Cockayne Syndrome
CUI: C1968561
Disease: Xeroderma Pigmentosum, Type G-Cockayne Syndrome
3 0.925 0.240 13 102852244 missense variant C/A;T snv 4.0E-06 0.700 0