rs121913050, 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.
XFE Progeroid Syndrome
CUI: C1970416
Disease: XFE Progeroid Syndrome
3 0.882 0.240 16 13926630 missense variant G/A;C;T snv 2.4E-05; 4.0E-06; 4.0E-06 0.800 0
Progeria
CUI: C0033300
Disease: Progeria
41 0.882 0.240 16 13926630 missense variant G/A;C;T snv 2.4E-05; 4.0E-06; 4.0E-06 0.010 1.000 1 2010 2010
Xeroderma Pigmentosum
CUI: C0043346
Disease: Xeroderma Pigmentosum
35 0.882 0.240 16 13926630 missense variant G/A;C;T snv 2.4E-05; 4.0E-06; 4.0E-06 0.010 1.000 1 2010 2010