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: rs149170427
rs149170427
CPLANE1
2 0.925 0.080 5 37198797 missense variant G/A snv 1.6E-05 2.1E-05 0.800 1.000 5 2011 2017
dbSNP: rs375009168
rs375009168
CPLANE1
2 0.925 0.080 5 37201718 stop gained G/A;T snv 8.0E-06 0.800 1.000 4 2011 2015
dbSNP: rs869312898
rs869312898
CPLANE1
1 1.000 0.080 5 37187460 missense variant T/C snv 7.0E-06 0.800 1.000 4 2011 2015
dbSNP: rs606231261
rs606231261
CPLANE1
1 1.000 0.080 5 37187795 missense variant C/G snv 8.0E-06 0.800 1.000 1 2011 2011
dbSNP: rs606231259
rs606231259
CPLANE1
2 0.925 0.080 5 37244452 frameshift variant T/- del 7.0E-05 0.700 1.000 4 2014 2017
dbSNP: rs141153181
rs141153181
CPLANE1
2 0.925 0.080 5 37198775 missense variant G/A;T snv 1.6E-05; 8.0E-06 0.700 1.000 3 2014 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: rs777686211
rs777686211
CPLANE1
5 0.851 0.200 5 37226776 frameshift variant A/-;AA delins 1.8E-04 0.700 1.000 2 2015 2017
dbSNP: rs1321423759
rs1321423759
CPLANE1
2 0.925 0.080 5 37244373 splice donor variant A/T snv 1.3E-05 0.700 1.000 1 2012 2012
dbSNP: rs1414913269
rs1414913269
CPLANE1
2 0.925 0.080 5 37243012 splice donor variant C/G snv 7.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs1554064102
rs1554064102
CPLANE1
2 0.925 0.080 5 37148216 frameshift variant -/C ins 0.700 1.000 1 2015 2015
dbSNP: rs1561376123
rs1561376123
CPLANE1
2 0.925 0.080 5 37139371 splice acceptor variant C/G snv 0.700 1.000 1 2012 2012
dbSNP: rs1561458987
rs1561458987
CPLANE1
2 0.925 0.080 5 37164272 splice donor variant C/T snv 0.700 1.000 1 2012 2012
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: rs756856188
rs756856188
CPLANE1
2 0.925 0.080 5 37244521 missense variant C/T snv 1.2E-04 1.4E-04 0.700 1.000 1 2015 2015
dbSNP: rs1187142382
rs1187142382
CPLANE1
2 0.925 0.080 5 37238887 frameshift variant TT/- del 0.700 0
dbSNP: rs1228082731
rs1228082731
CPLANE1
2 0.925 0.080 5 37201690 frameshift variant AG/- delins 7.0E-06 0.700 0
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: rs139675596
rs139675596
CPLANE1
2 0.925 0.080 5 37165595 stop gained G/A snv 5.7E-05 0.700 0
dbSNP: rs1434631255
rs1434631255
CPLANE1
1 1.000 0.080 5 37198824 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs1561584225
rs1561584225
CPLANE1
2 0.925 0.080 5 37201691 frameshift variant G/- del 0.700 0
dbSNP: rs1561655920
rs1561655920
CPLANE1
2 0.925 0.080 5 37224277 frameshift variant -/T delins 0.700 0
dbSNP: rs367543062
rs367543062
CPLANE1
2 0.925 0.080 5 37167046 splice donor variant C/T snv 1.2E-05 0.700 0
dbSNP: rs606231258
rs606231258
CPLANE1
1 1.000 0.080 5 37205455 splice acceptor variant C/A snv 0.700 0