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: rs121913023
rs121913023
ERCC2
4 0.851 0.400 19 45352511 missense variant C/T snv 2.0E-05 1.4E-05 0.800 1.000 1 2001 2001
dbSNP: rs121913024
rs121913024
ERCC2
4 0.851 0.400 19 45352802 missense variant G/A snv 5.6E-05 3.5E-05 0.800 1.000 1 2001 2001
dbSNP: rs121913026
rs121913026
ERCC2
4 0.851 0.400 19 45352235 missense variant G/A snv 2.4E-05 9.1E-05 0.700 0
dbSNP: rs1555775416
rs1555775416
ERCC2
1 1.000 0.280 19 45352307 stop gained G/A snv 0.700 0
dbSNP: rs376556895
rs376556895
ERCC2
4 0.851 0.400 19 45352801 missense variant C/G;T snv 1.5E-04; 8.0E-06 0.700 0
dbSNP: rs41556519
rs41556519
ERCC2
6 0.807 0.400 19 45352352 missense variant G/A snv 6.0E-05 2.8E-05 0.700 0