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: rs1057519946
rs1057519946
PPP2R1A
18 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519947
rs1057519947
PPP2R1A
9 0.790 0.160 19 52212730 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519956
rs1057519956
CNOT9
5 0.827 0.200 2 218583025 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519957
rs1057519957
CNOT9
5 0.827 0.200 2 218583026 missense variant C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519962
rs1057519962
SMAD4
6 0.827 0.160 18 51067035 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519964
rs1057519964
SPOP ; LOC107984999
1 1.000 0.080 17 49619282 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519965
rs1057519965
SPOP ; LOC107984999
1 1.000 0.080 17 49619280 missense variant G/A;C snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519966
rs1057519966
SPOP ; LOC107984999
3 0.882 0.080 17 49619064 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519967
rs1057519967
SPOP ; LOC107984999
1 1.000 0.080 17 49619063 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519968
rs1057519968
SPOP ; LOC107984999
2 0.925 0.120 17 49619070 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519969
rs1057519969
SPOP ; LOC107984999
2 0.925 0.120 17 49619069 missense variant C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519970
rs1057519970
SPOP ; LOC107984999
2 0.925 0.120 17 49619068 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519971
rs1057519971
SPOP ; LOC107984999
2 1.000 0.080 17 49619326 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519972
rs1057519972
SPOP ; LOC107984999
3 0.882 0.080 17 49619327 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519975
rs1057519975
TP53
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519977
rs1057519977
TP53
13 0.763 0.360 17 7675189 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519978
rs1057519978
TP53
12 0.763 0.360 17 7675191 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519999
rs1057519999
TP53
12 0.763 0.160 17 7674247 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520005
rs1057520005
TP53
14 0.742 0.360 17 7673800 missense variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520006
rs1057520006
TP53
14 0.752 0.240 17 7673799 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520009
rs1057520009
XPO1
14 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057520010
rs1057520010
XPO1
5 0.882 0.200 2 61492336 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs121909229
rs121909229
PTEN
23 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016