rs376556895, 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.
Xeroderma Pigmentosum, Complementation Group D
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
111 0.851 0.400 19 45352801 missense variant C/G;T snv 1.5E-04; 8.0E-06 0.810 1.000 15 1994 2016
Photosensitive Trichothiodystrophy
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
13 0.851 0.400 19 45352801 missense variant C/G;T snv 1.5E-04; 8.0E-06 0.800 1.000 6 1994 2001
Cerebrooculofacioskeletal Syndrome 2
CUI: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
6 0.851 0.400 19 45352801 missense variant C/G;T snv 1.5E-04; 8.0E-06 0.700 0
Trichothiodystrophy Syndromes
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
15 0.851 0.400 19 45352801 missense variant C/G;T snv 1.5E-04; 8.0E-06 0.010 1.000 1 1996 1996