rs587778271, ERCC2

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 D
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
111 0.925 0.160 19 45353296 frameshift variant AA/- delins 2.0E-04 0.700 1.000 3 2001 2016
Metachromatic leukodystrophy variant
CUI: C4024961
Disease: Metachromatic leukodystrophy variant
1 0.925 0.160 19 45353296 frameshift variant AA/- delins 2.0E-04 0.700 0