rs397509403, 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 0.200 16 13928149 missense variant T/C snv 7.0E-06 0.700 1.000 1 2013 2013
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
CUI: C3806565
Disease: XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
3 0.851 0.200 16 13928149 missense variant T/C snv 7.0E-06 0.700 0
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.851 0.200 16 13928149 missense variant T/C snv 7.0E-06 0.010 1.000 1 2015 2015
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
194 0.851 0.200 16 13928149 missense variant T/C snv 7.0E-06 0.010 1.000 1 2015 2015