rs752088918, 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
CUI: C0043346
Disease: Xeroderma Pigmentosum
35 0.925 0.160 3 14167223 frameshift variant AT/- delins 2.4E-05 2.1E-05 0.700 1.000 3 2000 2007
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
82 0.925 0.160 3 14167223 frameshift variant AT/- delins 2.4E-05 2.1E-05 0.700 1.000 3 2000 2006