Gene: ERCC1 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.090 0.889 9 2011 2019
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.060 1.000 6 2012 2019
dbSNP: rs2298881
rs2298881
ERCC1
25 0.653 0.400 19 45423658 intron variant C/A;T snv 0.020 1.000 2 2015 2019
dbSNP: rs1362623672
rs1362623672
ERCC1
4 0.851 0.080 19 45421317 missense variant G/C snv 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs781163425
rs781163425
ERCC1
1 1.000 0.080 19 45419188 stop gained G/A;C snv 7.0E-06 0.010 1.000 1 2011 2011