rs121913028, ERCC1

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.
CEREBROOCULOFACIOSKELETAL SYNDROME 4
3 0.851 0.400 19 45414870 missense variant G/A;C snv 1.2E-05; 1.6E-05 0.800 1.000 2 2007 2013
Cockayne Syndrome
CUI: C0009207
Disease: Cockayne Syndrome
11 0.851 0.400 19 45414870 missense variant G/A;C snv 1.2E-05; 1.6E-05 0.700 1.000 1 2013 2013
Cerebrooculofacioskeletal Syndrome 1
58 0.851 0.400 19 45414870 missense variant G/A;C snv 1.2E-05; 1.6E-05 0.010 1.000 1 2015 2015
Xeroderma pigmentosum, group F
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
31 0.851 0.400 19 45414870 missense variant G/A;C snv 1.2E-05; 1.6E-05 0.010 1.000 1 2015 2015