rs74737358, XPC

N. diseases: 2
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, COMPLEMENTATION GROUP C
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
82 0.925 0.160 3 14158882 missense variant G/A;T snv 8.1E-06; 2.6E-03 0.710 1.000 1 2008 2008
Xeroderma pigmentosum, group F
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
31 0.925 0.160 3 14158882 missense variant G/A;T snv 8.1E-06; 2.6E-03 0.010 1.000 1 2019 2019