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: rs606231259
rs606231259
CPLANE1
2 0.925 0.080 5 37244452 frameshift variant T/- del 7.0E-05 0.700 1.000 5 2014 2018
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: rs1554064102
rs1554064102
CPLANE1
2 0.925 0.080 5 37148216 frameshift variant -/C ins 0.700 1.000 1 2015 2015
dbSNP: rs1554084360
rs1554084360
CPLANE1
1 1.000 5 37184955 frameshift variant T/- delins 0.700 1.000 1 2018 2018
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: rs730882217
rs730882217
CPLANE1
2 0.925 5 37153962 frameshift variant TC/- del 0.700 1.000 1 2015 2015
dbSNP: rs768675259
rs768675259
CPLANE1
1 1.000 5 37170233 frameshift variant CA/- delins 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs779680371
rs779680371
CPLANE1
1 1.000 5 37244435 frameshift variant A/-;AA delins 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs794727154
rs794727154
CPLANE1
1 1.000 5 37221446 missense variant G/A snv 1.4E-05 0.700 1.000 1 2018 2018
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: rs863225156
rs863225156
CPLANE1
1 1.000 5 37168834 frameshift variant G/- delins 0.700 1.000 1 2015 2015
dbSNP: rs863225157
rs863225157
CPLANE1
1 1.000 5 37198737 frameshift variant TA/- delins 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: rs863225161
rs863225161
CPLANE1
1 1.000 5 37206215 frameshift variant -/T ins 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: rs863225164
rs863225164
CPLANE1
1 1.000 5 37221361 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs863225167
rs863225167
CPLANE1
1 1.000 5 37239730 missense variant T/G snv 7.0E-06 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: rs1242532564
rs1242532564
CPLANE1
1 1.000 5 37224609 frameshift variant AG/- del 0.700 0
dbSNP: rs1345413118
rs1345413118
CPLANE1
2 0.925 0.080 5 37125255 stop gained T/A;C snv 0.700 0