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: 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 4 2008 2014
dbSNP: rs1560184664
rs1560184664
CC2D2A
3 0.882 0.360 4 15563461 frameshift variant TA/- delins 0.700 0
dbSNP: rs370880399
rs370880399
CC2D2A
5 0.827 0.360 4 15563395 stop gained C/T snv 1.0E-04 1.0E-04 0.700 0
dbSNP: rs386833745
rs386833745
CC2D2A
1 1.000 0.200 4 15527635 frameshift variant G/- delins 0.700 0
dbSNP: rs386833746
rs386833746
CC2D2A
1 1.000 0.200 4 15533263 missense variant T/A;G snv 0.700 0
dbSNP: rs386833747
rs386833747
CC2D2A
1 1.000 0.200 4 15553306 splice donor variant G/A;C snv 4.1E-06 0.700 0
dbSNP: rs386833748
rs386833748
CC2D2A
1 1.000 0.200 4 15557451 stop gained C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs386833749
rs386833749
CC2D2A
1 1.000 0.200 4 15563423 frameshift variant G/- delins 4.2E-05 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
dbSNP: rs386833751
rs386833751
CC2D2A
4 0.851 0.320 4 15567676 splice acceptor variant G/- delins 0.700 0
dbSNP: rs386833753
rs386833753
CC2D2A
1 1.000 0.200 4 15569290 splice region variant C/A snv 0.700 0
dbSNP: rs386833754
rs386833754
CC2D2A
1 1.000 0.200 4 15570424 frameshift variant -/TG ins 0.700 0
dbSNP: rs386833755
rs386833755
CC2D2A
2 0.925 0.320 4 15570446 missense variant T/C snv 3.3E-05 2.1E-05 0.700 0
dbSNP: rs386833756
rs386833756
CC2D2A
1 1.000 0.200 4 15570484 frameshift variant T/- delins 0.700 0
dbSNP: rs386833757
rs386833757
CC2D2A
2 0.925 0.320 4 15579967 frameshift variant -/T delins 0.700 0
dbSNP: rs386833758
rs386833758
CC2D2A
1 1.000 0.200 4 15580089 missense variant T/A snv 0.700 0
dbSNP: rs386833759
rs386833759
CC2D2A
4 0.851 0.320 4 15580171 splice region variant AGTA/- delins 7.0E-06 0.700 0
dbSNP: rs386833760
rs386833760
CC2D2A
11 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 0.700 0
dbSNP: rs386833762
rs386833762
CC2D2A
1 1.000 0.200 4 15597467 splice donor variant T/A;C snv 1.2E-05 0.700 0
dbSNP: rs386833763
rs386833763
CC2D2A
1 1.000 0.200 4 15510217 stop gained C/T snv 8.2E-06 0.700 0
dbSNP: rs386833765
rs386833765
CC2D2A
1 1.000 0.200 4 15514822 frameshift variant G/- delins 7.0E-06 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: rs780673487
rs780673487
CC2D2A
1 1.000 0.200 4 15599582 missense variant C/G snv 8.1E-06 1.4E-05 0.700 0
dbSNP: rs781252161
rs781252161
CC2D2A
5 0.827 0.360 4 15533284 stop gained C/T snv 1.8E-05 7.0E-06 0.700 0