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: 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: rs1327245073
rs1327245073
CPLANE1
1 1.000 5 37226718 frameshift variant C/- del 6.6E-06 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: rs1482303814
rs1482303814
CPLANE1
2 1.000 5 37125344 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1554050342
rs1554050342
CPLANE1
1 1.000 5 37122451 frameshift variant T/- delins 0.700 0
dbSNP: rs1554068790
rs1554068790
CPLANE1
1 1.000 5 37157690 frameshift variant GG/- delins 0.700 0
dbSNP: rs1554083251
rs1554083251
CPLANE1
1 1.000 5 37183290 frameshift variant -/T delins 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: 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: 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: 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: 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
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: 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: 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