rs41556519, ERCC2

N. diseases: 6
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 0.807 0.400 19 45352352 missense variant G/A snv 6.0E-05 2.8E-05 0.810 1.000 2 1996 2012
Cerebrooculofacioskeletal Syndrome 2
CUI: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
6 0.807 0.400 19 45352352 missense variant G/A snv 6.0E-05 2.8E-05 0.700 0
Photosensitive Trichothiodystrophy
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
13 0.807 0.400 19 45352352 missense variant G/A snv 6.0E-05 2.8E-05 0.700 0
Malignant neoplasm of skin
CUI: C0007114
Disease: Malignant neoplasm of skin
38 0.807 0.400 19 45352352 missense variant G/A snv 6.0E-05 2.8E-05 0.010 1.000 1 2009 2009
Trichothiodystrophy Syndromes
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
15 0.807 0.400 19 45352352 missense variant G/A snv 6.0E-05 2.8E-05 0.010 1.000 1 1996 1996
Xeroderma Pigmentosum
CUI: C0043346
Disease: Xeroderma Pigmentosum
35 0.807 0.400 19 45352352 missense variant G/A snv 6.0E-05 2.8E-05 0.010 1.000 1 2009 2009