rs1555468482, ERCC4

N. diseases: 3
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
CUI: C0009207
Disease: Cockayne Syndrome
11 0.882 0.240 16 13935663 frameshift variant C/- del 0.700 1.000 1 2013 2013
FANCONI ANEMIA, COMPLEMENTATION GROUP Q
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
7 0.882 0.240 16 13935663 frameshift variant C/- del 0.700 1.000 1 2013 2013
Xeroderma pigmentosum, group F
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
31 0.882 0.240 16 13935663 frameshift variant C/- del 0.700 1.000 1 2013 2013