rs121913025, ERCC2

N. diseases: 2
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 45357295 missense variant A/G snv 0.700 1.000 7 1994 2004
Cerebrooculofacioskeletal Syndrome 1
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
58 0.925 0.240 19 45357295 missense variant A/G snv 0.700 0