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: rs121913469
rs121913469
ERBB2
11 0.763 0.240 17 39723966 missense variant TT/CC mnv 0.700 1.000 1 2016 2016
dbSNP: rs1057519908
rs1057519908
MAP2K1
4 0.882 0.120 15 66435105 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519932
rs1057519932
PIK3CA
22 0.683 0.320 3 179234298 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
20 0.695 0.320 17 7675996 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
10 0.763 0.280 15 44711548 start lost T/C;G 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: rs121912666
rs121912666
TP53
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913228
rs121913228
CTNNB1
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913272
rs121913272
PIK3CA
13 0.752 0.400 3 179210192 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913364
rs121913364
BRAF
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913470
rs121913470
ERBB2
13 0.776 0.200 17 39723967 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs587780073
rs587780073
TP53
19 0.708 0.400 17 7674262 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs730882026
rs730882026
TP53
15 0.742 0.440 17 7674256 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs747342068
rs747342068
TP53
21 0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs753660142
rs753660142
TP53
19 0.708 0.280 17 7673782 missense variant T/C;G snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs863224846
rs863224846
ACVR1
3 0.882 0.160 2 157770386 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs886039484
rs886039484
TP53
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519881
rs1057519881
CDKN2A
8 0.776 0.240 9 21971111 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519898
rs1057519898
FGFR1
5 0.851 0.120 8 38417333 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519899
rs1057519899
FGFR1
5 0.851 0.120 8 38417879 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519937
rs1057519937
PIK3CA
11 0.776 0.200 3 179234285 missense variant T/C 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: rs391957
rs391957
HSPA5 ; LOC107987127
10 0.763 0.240 9 125241745 non coding transcript exon variant T/C snv 0.72 0.010 1.000 1 2011 2011
dbSNP: rs876660807
rs876660807
TP53
12 0.763 0.160 17 7674248 missense variant T/C snv 0.700 1.000 1 2016 2016