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: rs1399429058
rs1399429058
POLR3A
1 1.000 0.160 10 77993277 missense variant C/T snv 4.0E-06 0.800 1.000 4 2016 2018
dbSNP: rs757209071
rs757209071
POLR3A
1 1.000 0.160 10 77981445 missense variant C/T snv 1.2E-05 7.0E-06 0.800 1.000 4 2016 2018
dbSNP: rs768222183
rs768222183
POLR3A
1 1.000 0.160 10 77980162 missense variant C/T snv 4.0E-06 0.800 1.000 4 2016 2018
dbSNP: rs778985686
rs778985686
POLR3A
1 1.000 0.160 10 77985206 missense variant C/T snv 2.0E-05 0.800 1.000 4 2016 2018
dbSNP: rs138305578
rs138305578
POLR3A
1 1.000 0.160 10 77983957 missense variant T/C snv 2.8E-05 6.3E-05 0.800 0
dbSNP: rs148932047
rs148932047
POLR3A
1 1.000 0.160 10 77993367 stop gained G/A snv 4.8E-05 4.2E-05 0.710 1.000 1 2016 2016
dbSNP: rs1168641193
rs1168641193
POLR3A
1 1.000 0.160 10 78029405 start lost C/A snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1248039821
rs1248039821
POLR3A
1 1.000 0.160 10 77977460 3 prime UTR variant G/A snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs141484643
rs141484643
POLR3A
1 1.000 0.160 10 78013649 splice donor variant C/A;G;T snv 8.0E-06; 8.0E-06; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs141659018
rs141659018
POLR3A
1 1.000 0.160 10 78022270 stop gained G/A snv 2.4E-05 3.5E-05 0.700 1.000 1 2018 2018
dbSNP: rs1462460124
rs1462460124
POLR3A
1 1.000 0.160 10 77984300 splice acceptor variant T/C snv 4.0E-06 2.1E-05 0.700 1.000 1 2018 2018
dbSNP: rs1564613755
rs1564613755
POLR3A
1 1.000 0.160 10 77984023 intron variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs1564623882
rs1564623882
POLR3A
1 1.000 0.160 10 78024970 splice donor variant C/T snv 0.700 1.000 1 2018 2018
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 1.000 1 2018 2018
dbSNP: rs368905417
rs368905417
POLR3A
1 1.000 0.160 10 77984017 splice region variant A/T snv 4.0E-06 7.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs774007232
rs774007232
POLR3A
1 1.000 0.160 10 78007771 stop gained G/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1041175828
rs1041175828
POLR3A
1 1.000 0.160 10 77984013 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs1564612961
rs1564612961
POLR3A
1 1.000 0.160 10 77981546 frameshift variant AG/- delins 0.700 0
dbSNP: rs1564617848
rs1564617848
POLR3A
1 1.000 0.160 10 78000980 stop gained G/C snv 0.700 0
dbSNP: rs1564620047
rs1564620047
POLR3A
1 1.000 0.160 10 78009646 synonymous variant G/A snv 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: rs267608677
rs267608677
POLR3A
2 0.925 0.280 10 78009519 intron variant C/T snv 0.700 0
dbSNP: rs890755853
rs890755853
POLR3A
1 1.000 0.160 10 78021855 splice region variant C/A snv 4.0E-06 7.0E-06 0.700 0