rs1554073175, ERCC8

N. diseases: 1
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.
Cockayne Syndrome, Type I
CUI: C0751039
Disease: Cockayne Syndrome, Type I
42 1.000 0.160 5 60899666 frameshift variant C/- del 0.700 0