rs1228981894, XPC

N. diseases: 1
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 1.000 0.160 3 14170507 frameshift variant CT/- delins 4.0E-06 7.0E-06 0.700 1.000 1 2013 2013