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: rs1473532901
rs1473532901
CC2D2A
1 1.000 0.320 4 15567764 missense variant G/A snv 7.0E-06 0.700 1.000 8 2008 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: rs386833759
rs386833759
CC2D2A
4 0.851 0.320 4 15580171 splice region variant AGTA/- delins 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs386833760
rs386833760
CC2D2A
11 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 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: rs863225173
rs863225173
CC2D2A
1 1.000 0.320 4 15563474 missense variant T/C snv 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs863225174
rs863225174
CC2D2A
1 1.000 0.320 4 15601303 missense variant A/G snv 7.0E-06 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: rs863225179
rs863225179
CC2D2A
1 1.000 0.320 4 15597460 missense variant A/C snv 0.700 1.000 1 2015 2015
dbSNP: rs863225181
rs863225181
CC2D2A
1 1.000 0.320 4 15570501 splice region variant G/A snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1560184664
rs1560184664
CC2D2A
3 0.882 0.360 4 15563461 frameshift variant TA/- delins 0.700 0
dbSNP: rs797045437
rs797045437
CC2D2A
3 0.882 0.320 4 15597432 frameshift variant GACA/- delins 0.700 0
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: 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: 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: rs764719093
rs764719093
CC2D2A
3 0.882 0.360 4 15557361 stop gained C/A;T snv 4.0E-06; 4.0E-06; 4.0E-06 0.700 0
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: rs1478902342
rs1478902342
CC2D2A
1 1.000 0.320 4 15599591 missense variant A/G snv 4.0E-06 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