rs121913023, 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.
Cerebrooculofacioskeletal Syndrome 2
CUI: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
6 0.851 0.400 19 45352511 missense variant C/T snv 2.0E-05 1.4E-05 0.800 1.000 1 2001 2001
Xeroderma Pigmentosum, Complementation Group D
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
111 0.851 0.400 19 45352511 missense variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 7 1994 2004
Cerebrooculofacioskeletal Syndrome 1
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
58 0.851 0.400 19 45352511 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2001 2001
Xeroderma Pigmentosum
CUI: C0043346
Disease: Xeroderma Pigmentosum
35 0.851 0.400 19 45352511 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2001 2001