rs1232856265, ERCC3

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.
Cerebrooculofacioskeletal Syndrome 1
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
58 0.925 0.240 2 127261248 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2001 2001
Xeroderma Pigmentosum
CUI: C0043346
Disease: Xeroderma Pigmentosum
35 0.925 0.240 2 127261248 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2001 2001