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: rs267608671
rs267608671
POLR3A
1 1.000 0.200 10 78000043 missense variant T/C snv 8.0E-06 7.0E-06 0.800 0
dbSNP: rs138249161
rs138249161
POLR3B
8 0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 0.710 1.000 1 2015 2015
dbSNP: rs1217230904
rs1217230904
POLR3A
1 1.000 0.200 10 78021978 missense variant C/G snv 0.700 1.000 4 2011 2014
dbSNP: rs371703979
rs371703979
POLR3A
1 1.000 0.200 10 77981538 missense variant C/T snv 1.6E-05 3.5E-05 0.700 1.000 4 2011 2014
dbSNP: rs762708292
rs762708292
POLR3A
1 1.000 0.200 10 78009642 missense variant T/G snv 4.0E-06 0.700 1.000 4 2011 2014
dbSNP: rs201314157
rs201314157
POLR3A
1 1.000 0.200 10 78009682 splice region variant G/A;C;T snv 3.1E-04; 1.1E-04; 1.7E-04 0.700 1.000 1 1977 1977
dbSNP: rs780839834
rs780839834
POLR3A
1 1.000 0.200 10 78004844 stop gained G/A snv 8.0E-06 0.700 1.000 1 1977 1977
dbSNP: rs1307896663
rs1307896663
POLR3A
1 1.000 0.200 10 78021571 missense variant G/C snv 0.700 0
dbSNP: rs1375717376
rs1375717376
POLR3A
1 1.000 0.200 10 78025668 missense variant G/A snv 0.700 0
dbSNP: rs1554837782
rs1554837782
POLR3A
1 1.000 0.200 10 77984299 splice acceptor variant C/T snv 0.700 0
dbSNP: rs181087667
rs181087667
POLR3A
2 0.925 0.280 10 77993368 splice acceptor variant C/T snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs191875469
rs191875469
POLR3A
2 0.925 0.280 10 78009515 intron variant C/T snv 1.4E-03 1.5E-03 0.700 0
dbSNP: rs267608670
rs267608670
POLR3A
2 0.925 0.240 10 78007761 missense variant C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs267608673
rs267608673
POLR3A
1 1.000 0.200 10 78021617 missense variant C/T snv 1.4E-05 0.700 0
dbSNP: rs267608677
rs267608677
POLR3A
2 0.925 0.280 10 78009519 intron variant C/T snv 0.700 0
dbSNP: rs267608678
rs267608678
POLR3A
1 1.000 0.200 10 78025043 stop gained G/A snv 1.4E-05 0.700 0
dbSNP: rs267608681
rs267608681
POLR3A
1 1.000 0.200 10 77993294 missense variant A/T snv 0.700 0
dbSNP: rs267608682
rs267608682
POLR3A
1 1.000 0.200 10 77985961 missense variant G/A snv 2.4E-05 0.700 0
dbSNP: rs774526181
rs774526181
POLR3B
3 0.882 0.200 12 106427360 splice donor variant T/C snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs755312623
rs755312623
POLR3B
1 1.000 0.200 12 106444495 missense variant C/T snv 9.5E-05 4.2E-05 0.010 1.000 1 2015 2015