rs147105770, ERCC4

N. diseases: 8
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 0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05 0.710 1.000 7 2010 2018
FANCONI ANEMIA, COMPLEMENTATION GROUP Q
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
7 0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05 0.700 1.000 6 2010 2016
Xeroderma pigmentosum, group F
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
31 0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05 0.700 1.000 6 2010 2016
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
CUI: C3806565
Disease: XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
3 0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05 0.700 0
XFE Progeroid Syndrome
CUI: C1970416
Disease: XFE Progeroid Syndrome
3 0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05 0.700 0
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05 0.010 1.000 1 2018 2018
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
194 0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05 0.010 1.000 1 2018 2018
Xeroderma Pigmentosum
CUI: C0043346
Disease: Xeroderma Pigmentosum
35 0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05 0.010 1.000 1 2018 2018