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: 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: rs863225171
rs863225171
CC2D2A
1 1.000 0.320 4 15574297 frameshift variant -/GGTT 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: rs1392635342
rs1392635342
CC2D2A
1 1.000 0.320 4 15511290 frameshift variant -/TA delins 4.3E-06 0.700 0
dbSNP: rs387907058
rs387907058
CC2D2A
1 1.000 0.320 4 15596110 missense variant A/C snv 2.6E-05 3.5E-05 0.700 1.000 8 2008 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: rs144439937
rs144439937
CC2D2A
1 1.000 0.320 4 15533245 missense variant A/G snv 6.4E-03 6.4E-03 0.700 1.000 8 2008 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: rs1478902342
rs1478902342
CC2D2A
1 1.000 0.320 4 15599591 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs201502401
rs201502401
CC2D2A
3 0.882 0.320 4 15599699 missense variant A/T snv 2.0E-04 2.0E-04 0.800 1.000 9 2008 2015
dbSNP: rs773881370
rs773881370
CC2D2A
1 1.000 0.320 4 15560607 missense variant A/T snv 2.4E-05 7.0E-06 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: 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: 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
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: 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: 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: 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: 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: 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: 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: rs118204052
rs118204052
CC2D2A
2 0.925 0.360 4 15599614 missense variant C/T snv 8.0E-06 7.0E-06 0.800 1.000 9 2008 2015
dbSNP: rs386833752
rs386833752
CC2D2A
2 0.925 0.320 4 15567729 missense variant C/T snv 3.8E-05 2.8E-05 0.800 1.000 9 2008 2015
dbSNP: rs267606709
rs267606709
CC2D2A
2 0.925 0.360 4 15567735 missense variant C/T snv 3.8E-05 5.6E-05 0.700 1.000 1 2015 2015
dbSNP: rs370880399
rs370880399
CC2D2A
5 0.827 0.360 4 15563395 stop gained C/T snv 1.0E-04 1.0E-04 0.700 1.000 1 2015 2015