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: rs1057519983
rs1057519983
TP53
16 0.724 0.360 17 7673797 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520036
rs1057520036
FGFR4
3 0.925 0.080 5 177093180 missense variant A/G snv 0.700 1.000 1 2010 2010
dbSNP: rs10941679
rs10941679 		11 0.763 0.120 5 44706396 intergenic variant A/G snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121913288
rs121913288
PIK3CA
2 1.000 0.200 3 179234219 missense variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs1555582520
rs1555582520
BRCA1
1 17 43076486 splice donor variant A/G snv 0.700 1.000 1 2004 2004
dbSNP: rs2306969
rs2306969
FUT3 ; LOC101928844
4 0.925 0.040 19 5851790 intron variant A/G snv 0.76 0.010 1.000 1 2019 2019
dbSNP: rs3803662
rs3803662
CASC16
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.010 < 0.001 1 2016 2016
dbSNP: rs904571820
rs904571820
ESR1
5 0.851 0.160 6 151842664 start lost A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs984257990
rs984257990
IGF2 ; MIR483 ; INS-IGF2
3 0.925 0.080 11 2135495 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1215280530
rs1215280530
CTCF
1 16 67616822 missense variant A/G snv 0.700 0
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.740 1.000 14 2004 2016
dbSNP: rs1057519936
rs1057519936
PIK3CA
11 0.776 0.200 3 179234284 missense variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs80357086
rs80357086
BRCA1
8 0.851 0.200 17 43106480 stop gained A/G;T snv 0.700 0
dbSNP: rs80359222
rs80359222
BRCA2
3 0.925 0.200 13 32394913 stop gained A/G;T snv 0.700 0
dbSNP: rs1057519826
rs1057519826
BTK
7 0.882 0.120 X 101356177 missense variant A/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519854
rs1057519854
FGFR2
7 0.882 0.080 10 121488063 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519892
rs1057519892
ERBB3
5 0.851 0.160 12 56088558 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519926
rs1057519926
PIK3CA
10 0.776 0.200 3 179210293 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs80358427
rs80358427
BRCA2
10 0.776 0.280 13 32332877 stop gained A/T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs886037787
rs886037787
BRCA1
2 1.000 17 43092961 stop gained A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1555283169
rs1555283169
BRCA2
2 1.000 13 32337677 stop gained A/T snv 0.700 0
dbSNP: rs878853297
rs878853297
BRCA2
4 0.925 0.200 13 32319166 frameshift variant AA/-;A;AAA delins 0.700 1.000 1 2016 2016
dbSNP: rs80357724
rs80357724
BRCA1
4 0.925 0.200 17 43094732 frameshift variant AA/-;A;AAA delins 0.700 0