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: 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: 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: 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: 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: 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 1 2015 2015
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: 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: rs145520487
rs145520487
CPLANE1
1 1.000 5 37187826 synonymous variant A/G snv 6.5E-04 8.5E-04 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: rs1482303814
rs1482303814
CPLANE1
2 1.000 5 37125344 stop gained C/T snv 7.0E-06 0.700 0
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: rs1554050342
rs1554050342
CPLANE1
1 1.000 5 37122451 frameshift variant T/- delins 0.700 0
dbSNP: rs1554064102
rs1554064102
CPLANE1
2 0.925 0.080 5 37148216 frameshift variant -/C ins 0.700 1.000 1 2015 2015
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: 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: 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: rs200444162
rs200444162
CPLANE1
1 1.000 5 37182833 missense variant G/T snv 1.2E-05 2.1E-05 0.700 1.000 1 2018 2018