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: rs139675596
rs139675596
CPLANE1
2 0.925 0.080 5 37165595 stop gained G/A snv 5.7E-05 0.700 1.000 2 2012 2015
dbSNP: rs749523755
rs749523755
CPLANE1
4 0.882 0.080 5 37157810 stop gained A/T snv 2.4E-05 7.0E-06 0.700 1.000 2 2015 2015
dbSNP: rs141507441
rs141507441
CPLANE1
1 1.000 5 37125330 stop gained G/A snv 3.2E-05 4.2E-05 0.700 1.000 1 2015 2015
dbSNP: rs147416429
rs147416429
CPLANE1
1 1.000 5 37153973 stop gained G/A snv 2.0E-05 0.700 1.000 1 2015 2015
dbSNP: rs374144275
rs374144275
CPLANE1
2 0.925 0.080 5 37120306 stop gained G/A snv 3.1E-05 1.9E-04 0.700 1.000 1 2015 2015
dbSNP: rs530569572
rs530569572
CPLANE1
1 1.000 5 37226811 stop gained A/C snv 8.4E-05 6.3E-05 0.700 1.000 1 2015 2015
dbSNP: rs770770257
rs770770257
CPLANE1
1 1.000 5 37180021 stop gained A/C snv 1.5E-05 2.8E-05 0.700 1.000 1 2018 2018
dbSNP: rs776886962
rs776886962
CPLANE1
1 1.000 5 37224655 stop gained G/A snv 1.3E-05 6.3E-05 0.700 1.000 1 2015 2015
dbSNP: rs863225152
rs863225152
CPLANE1
1 1.000 5 37153784 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs863225153
rs863225153
CPLANE1
1 1.000 5 37125324 stop gained C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs863225155
rs863225155
CPLANE1
1 1.000 5 37138742 stop gained C/A snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs863225158
rs863225158
CPLANE1
1 1.000 5 37226320 stop gained G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs863225159
rs863225159
CPLANE1
1 1.000 5 37158258 stop gained C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs863225162
rs863225162
CPLANE1
1 1.000 5 37206339 stop gained C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs863225163
rs863225163
CPLANE1
1 1.000 5 37224679 stop gained G/A snv 3.2E-05 3.5E-05 0.700 1.000 1 2015 2015
dbSNP: rs863225164
rs863225164
CPLANE1
1 1.000 5 37221361 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs863225166
rs863225166
CPLANE1
1 1.000 5 37206423 stop gained G/A;C snv 6.4E-06 0.700 1.000 1 2015 2015
dbSNP: rs1345413118
rs1345413118
CPLANE1
2 0.925 0.080 5 37125255 stop gained T/A;C snv 0.700 0
dbSNP: rs1381740657
rs1381740657
CPLANE1
2 0.925 0.080 5 37169324 stop gained G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1482303814
rs1482303814
CPLANE1
2 1.000 5 37125344 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs367543063
rs367543063
CPLANE1
1 1.000 5 37183377 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs375009168
rs375009168
CPLANE1
2 0.925 0.080 5 37201718 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs755097302
rs755097302
CPLANE1
2 0.925 0.080 5 37227669 stop gained G/A;T snv 3.2E-05; 6.4E-06 0.700 0
dbSNP: rs957588958
rs957588958
CPLANE1
2 0.925 0.080 5 37239838 stop gained G/A snv 1.4E-05 0.700 0
dbSNP: rs149170427
rs149170427
CPLANE1
2 0.925 0.080 5 37198797 missense variant G/A snv 1.6E-05 2.1E-05 0.700 1.000 4 2013 2017