Gene: CC2D2A ×
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: rs118204051
rs118204051
CC2D2A
1 1.000 0.320 4 15567752 missense variant C/T snv 4.3E-06 0.800 1.000 9 2008 2015
dbSNP: rs754221308
rs754221308
CC2D2A
1 1.000 0.320 4 15536988 missense variant T/C snv 4.0E-06 0.800 1.000 9 2008 2015
dbSNP: rs779823379
rs779823379
CC2D2A
1 1.000 0.320 4 15580046 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.800 1.000 9 2008 2015
dbSNP: rs118204053
rs118204053
CC2D2A
1 1.000 0.320 4 15559183 stop gained C/G;T snv 6.2E-06 0.700 1.000 1 2015 2015
dbSNP: rs200904521
rs200904521
CC2D2A
1 1.000 0.320 4 15555209 stop gained C/A;T snv 8.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs386833751
rs386833751
CC2D2A
4 0.851 0.320 4 15567676 splice acceptor variant G/- delins 0.700 1.000 1 2015 2015
dbSNP: rs386833757
rs386833757
CC2D2A
2 0.925 0.320 4 15579967 frameshift variant -/T delins 0.700 1.000 1 2015 2015
dbSNP: rs576298659
rs576298659
CC2D2A
1 1.000 0.320 4 15586154 splice region variant C/A;T snv 8.1E-06; 2.8E-05 0.700 1.000 1 2015 2015
dbSNP: rs762998472
rs762998472
CC2D2A
1 1.000 0.320 4 15527560 frameshift variant -/GGCATGTTTTGGC;GGCATGTTTTGGCAGCGA ins 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs763735590
rs763735590
CC2D2A
1 1.000 0.320 4 15580087 frameshift variant GT/- delins 0.700 1.000 1 2015 2015
dbSNP: rs863225168
rs863225168
CC2D2A
1 1.000 0.320 4 15589654 missense variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs863225169
rs863225169
CC2D2A
1 1.000 0.320 4 15567482 missense variant G/C snv 0.700 1.000 1 2015 2015
dbSNP: rs863225171
rs863225171
CC2D2A
1 1.000 0.320 4 15574297 frameshift variant -/GGTT delins 0.700 1.000 1 2015 2015
dbSNP: rs863225172
rs863225172
CC2D2A
1 1.000 0.320 4 15579967 splice acceptor variant G/T snv 5.2E-05 0.700 1.000 1 2015 2015
dbSNP: rs863225175
rs863225175
CC2D2A
1 1.000 0.320 4 15601404 frameshift variant CTCT/- delins 0.700 1.000 1 2015 2015
dbSNP: rs863225176
rs863225176
CC2D2A
1 1.000 0.320 4 15589591 missense variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs863225177
rs863225177
CC2D2A
1 1.000 0.320 4 15533228 inframe deletion AGA/- delins 0.700 1.000 1 2015 2015
dbSNP: rs863225178
rs863225178
CC2D2A
1 1.000 0.320 4 15557349 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs863225179
rs863225179
CC2D2A
1 1.000 0.320 4 15597460 missense variant A/C snv 0.700 1.000 1 2015 2015
dbSNP: rs1392635342
rs1392635342
CC2D2A
1 1.000 0.320 4 15511290 frameshift variant -/TA delins 4.3E-06 0.700 0
dbSNP: rs1478902342
rs1478902342
CC2D2A
1 1.000 0.320 4 15599591 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1560184664
rs1560184664
CC2D2A
3 0.882 0.360 4 15563461 frameshift variant TA/- delins 0.700 0
dbSNP: rs186264635
rs186264635
CC2D2A
1 1.000 0.320 4 15502836 missense variant T/C;G snv 4.1E-06; 1.3E-03 0.700 0
dbSNP: rs199768782
rs199768782
CC2D2A
1 1.000 0.320 4 15540994 missense variant C/A;T snv 6.4E-06; 2.4E-03 0.700 0
dbSNP: rs386833750
rs386833750
CC2D2A
6 0.807 0.360 4 15563485 stop gained C/A;G;T snv 2.0E-05; 2.0E-05 0.700 0