rs121913049, ERCC4

N. diseases: 4
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.
Xeroderma pigmentosum, group F
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
31 0.851 0.240 16 13947991 missense variant C/G;T snv 4.8E-04 0.700 1.000 4 1996 2011
XFE Progeroid Syndrome
CUI: C1970416
Disease: XFE Progeroid Syndrome
3 0.851 0.240 16 13947991 missense variant C/G;T snv 4.8E-04 0.700 0
Xeroderma Pigmentosum
CUI: C0043346
Disease: Xeroderma Pigmentosum
35 0.851 0.240 16 13947991 missense variant C/G;T snv 4.8E-04 0.020 1.000 2 2010 2019
Progeria
CUI: C0033300
Disease: Progeria
41 0.851 0.240 16 13947991 missense variant C/G;T snv 4.8E-04 0.010 1.000 1 2010 2010