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: 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: rs863225154
rs863225154
CPLANE1
2 0.925 0.160 5 37122429 splice donor variant C/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1554050342
rs1554050342
CPLANE1
1 1.000 5 37122451 frameshift variant T/- delins 0.700 0
dbSNP: rs1345413118
rs1345413118
CPLANE1
2 0.925 0.080 5 37125255 stop gained T/A;C snv 0.700 0
dbSNP: rs770758833
rs770758833
CPLANE1
1 1.000 5 37125315 frameshift variant C/- delins 4.0E-06 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: 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: rs1482303814
rs1482303814
CPLANE1
2 1.000 5 37125344 stop gained C/T snv 7.0E-06 0.700 0
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: rs1561376123
rs1561376123
CPLANE1
2 0.925 0.080 5 37139371 splice acceptor variant C/G snv 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: rs775263897
rs775263897
CPLANE1
4 0.882 0.080 5 37148217 frameshift variant T/-;TT delins 4.0E-06; 8.0E-06 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: rs730882217
rs730882217
CPLANE1
2 0.925 5 37153962 frameshift variant TC/- del 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: rs1554068790
rs1554068790
CPLANE1
1 1.000 5 37157690 frameshift variant GG/- delins 0.700 0
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: rs863225159
rs863225159
CPLANE1
1 1.000 5 37158258 stop gained C/G;T snv 0.700 1.000 1 2015 2015
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: 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: rs367543062
rs367543062
CPLANE1
2 0.925 0.080 5 37167046 splice donor variant C/T snv 1.2E-05 0.700 0
dbSNP: rs863225156
rs863225156
CPLANE1
1 1.000 5 37168834 frameshift variant G/- delins 0.700 1.000 1 2015 2015
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: rs367543064
rs367543064
CPLANE1
1 1.000 5 37170096 frameshift variant G/- delins 0.700 0
dbSNP: rs768675259
rs768675259
CPLANE1
1 1.000 5 37170233 frameshift variant CA/- delins 7.0E-06 0.700 1.000 1 2015 2015