rs786205168, ERCC6

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 II
CUI: C0751038
Disease: Cockayne Syndrome, Type II
69 1.000 0.160 10 49505892 frameshift variant C/- del 0.700 1.000 1 1998 1998