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: 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: 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: rs1351213477
rs1351213477
MAF ; WWOX
3 1.000 0.080 16 79211708 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs193920894
rs193920894
SPOP ; LOC107984999
2 0.925 0.080 17 49619281 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs193921065
rs193921065
SPOP ; LOC107984999
1 1.000 0.080 17 49619062 missense variant G/C snv 4.0E-06 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: rs1057519862
rs1057519862
ERBB2
5 0.851 0.160 17 39723405 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519938
rs1057519938
PIK3CA
10 0.776 0.160 3 179203764 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519939
rs1057519939
PIK3CA
10 0.776 0.160 3 179203763 missense variant A/C 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: rs1057519962
rs1057519962
SMAD4
6 0.827 0.160 18 51067035 missense variant G/A;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: rs121913284
rs121913284
PIK3CA
11 0.776 0.160 3 179203765 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs776941569
rs776941569
CTSB
6 0.851 0.160 8 11853378 frameshift variant AG/- del 1.6E-04 1.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs876660807
rs876660807
TP53
12 0.763 0.160 17 7674248 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519912
rs1057519912
MED12
11 0.776 0.200 X 71129408 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519940
rs1057519940
PIK3CA
13 0.752 0.200 3 179218308 missense variant G/T 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