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: 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: 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: 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: rs147416429
rs147416429
CPLANE1
1 1.000 5 37153973 stop gained G/A snv 2.0E-05 0.700 1.000 1 2015 2015
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: 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: rs770758833
rs770758833
CPLANE1
1 1.000 5 37125315 frameshift variant C/- delins 4.0E-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: 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: 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: 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: rs863225166
rs863225166
CPLANE1
1 1.000 5 37206423 stop gained G/A;C snv 6.4E-06 0.700 1.000 1 2015 2015