Gene: CPLANE1 ×
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: rs367543061
rs367543061
CPLANE1
1 1.000 5 37187488 missense variant G/A snv 1.6E-05; 4.0E-06 2.1E-05 0.800 1.000 4 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: rs367543063
rs367543063
CPLANE1
1 1.000 5 37183377 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs367543064
rs367543064
CPLANE1
1 1.000 5 37170096 frameshift variant G/- delins 0.700 0
dbSNP: rs373704405
rs373704405
CPLANE1
1 1.000 5 37231020 missense variant G/A snv 2.6E-05 2.8E-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: rs375009168
rs375009168
CPLANE1
2 0.925 0.080 5 37201718 stop gained G/A;T snv 8.0E-06 0.700 0
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: 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: rs730882217
rs730882217
CPLANE1
2 0.925 5 37153962 frameshift variant TC/- del 0.700 1.000 1 2015 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: 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: 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: rs759649053
rs759649053
CPLANE1
1 1.000 5 37183538 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs760906097
rs760906097
CPLANE1
1 1.000 5 37221459 missense variant G/A;T snv 3.5E-05 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: rs770758833
rs770758833
CPLANE1
1 1.000 5 37125315 frameshift variant C/- delins 4.0E-06 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: rs773362418
rs773362418
CPLANE1
1 1.000 5 37206347 missense variant C/A snv 6.4E-06 7.0E-06 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: 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: 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: 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