rs121913021, ERCC2

N. diseases: 3
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 0.882 0.160 19 45352580 missense variant G/A snv 2.8E-05 4.2E-05 0.800 1.000 6 1994 2001
Trichothiodystrophy Syndromes
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
15 0.882 0.160 19 45352580 missense variant G/A snv 2.8E-05 4.2E-05 0.010 1.000 1 1996 1996
Xeroderma Pigmentosum, Complementation Group D
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
111 0.882 0.160 19 45352580 missense variant G/A snv 2.8E-05 4.2E-05 0.010 1.000 1 1996 1996