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: 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: rs1392635342
rs1392635342
CC2D2A
1 1.000 0.320 4 15511290 frameshift variant -/TA delins 4.3E-06 0.700 0
dbSNP: rs200407856
rs200407856
CC2D2A
3 0.882 0.320 4 15516005 splice donor variant G/A snv 4.7E-05 7.7E-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: rs863225177
rs863225177
CC2D2A
1 1.000 0.320 4 15533228 inframe deletion AGA/- delins 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: rs781252161
rs781252161
CC2D2A
5 0.827 0.360 4 15533284 stop gained C/T snv 1.8E-05 7.0E-06 0.700 1.000 1 2015 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: 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: 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: 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: 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: 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: 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
dbSNP: rs1560184664
rs1560184664
CC2D2A
3 0.882 0.360 4 15563461 frameshift variant TA/- delins 0.700 0
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: 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: rs863225169
rs863225169
CC2D2A
1 1.000 0.320 4 15567482 missense variant G/C snv 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: 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: 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: 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: rs863225170
rs863225170
CC2D2A
1 1.000 0.320 4 15569346 missense variant T/C snv 9.8E-06 7.0E-06 0.700 1.000 1 2015 2015