rs121913019, 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.
Xeroderma Pigmentosum, Complementation Group D
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
111 0.925 0.240 19 45354774 missense variant T/C;G snv 4.0E-06 0.710 1.000 8 1994 2016
Cerebrooculofacioskeletal Syndrome 1
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
58 0.925 0.240 19 45354774 missense variant T/C;G snv 4.0E-06 0.700 0
Skin Manifestations
CUI: C0037285
Disease: Skin Manifestations
5 0.925 0.240 19 45354774 missense variant T/C;G snv 4.0E-06 0.010 1 2016 2016