rs762309206, 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.
Photosensitive Trichothiodystrophy
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
13 0.925 0.160 19 45364833 splice donor variant CACT/- delins 1.1E-04 0.700 0
Xeroderma Pigmentosum, Complementation Group D
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
111 0.925 0.160 19 45364833 splice donor variant CACT/- delins 1.1E-04 0.700 0