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: rs121913045
rs121913045
ERCC3
3 0.882 0.240 2 127292785 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs121913047
rs121913047
ERCC3
1 1.000 0.160 2 127286772 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs121913048
rs121913048
ERCC3
1 1.000 0.160 2 127279270 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs138385061
rs138385061
ERCC3
2 1.000 0.160 2 127289763 stop gained G/A;C snv 1.6E-05; 8.0E-06 0.700 0
dbSNP: rs1558964705
rs1558964705
ERCC3
1 1.000 0.160 2 127292609 splice donor variant C/T snv 0.700 0
dbSNP: rs34295337
rs34295337
ERCC3
1 1.000 0.160 2 127292756 stop gained G/A snv 5.3E-04 2.9E-04 0.700 0
dbSNP: rs587778281
rs587778281
ERCC3
1 1.000 0.160 2 127280552 frameshift variant -/T delins 6.3E-05 0.700 0
dbSNP: rs866379139
rs866379139
ERCC3
1 1.000 0.160 2 127289349 frameshift variant AA/- delins 2.4E-05 2.1E-05 0.700 0