Gene: ERCC4 ×
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: rs121913049
rs121913049
ERCC4
4 0.851 0.240 16 13947991 missense variant C/G;T snv 4.8E-04 0.020 1.000 2 2010 2019
dbSNP: rs121913050
rs121913050
ERCC4
3 0.882 0.240 16 13926630 missense variant G/A;C;T snv 2.4E-05; 4.0E-06; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs147105770
rs147105770
ERCC4
8 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