rs121913026, ERCC2

N. diseases: 4
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 0.851 0.400 19 45352235 missense variant G/A snv 2.4E-05 9.1E-05 0.800 1.000 6 1994 2001
Xeroderma Pigmentosum, Complementation Group D
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
111 0.851 0.400 19 45352235 missense variant G/A snv 2.4E-05 9.1E-05 0.710 1.000 1 1996 1996
Cerebrooculofacioskeletal Syndrome 2
CUI: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
6 0.851 0.400 19 45352235 missense variant G/A snv 2.4E-05 9.1E-05 0.700 0
Trichothiodystrophy Syndromes
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
15 0.851 0.400 19 45352235 missense variant G/A snv 2.4E-05 9.1E-05 0.050 1.000 5 1996 2019