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: rs17849781
rs17849781
TP53
22 0.701 0.480 17 7673788 missense variant G/A;C;T snv 0.710 1.000 2 2014 2016
dbSNP: rs28934874
rs28934874
TP53
21 0.695 0.480 17 7675161 missense variant G/A;C;T snv 0.710 1.000 2 2014 2016
dbSNP: rs760043106
rs760043106
TP53
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.710 1.000 2 2016 2016
dbSNP: rs80357243
rs80357243
BRCA1
2 17 43063885 missense variant A/C;G snv 0.700 1.000 2 2010 2015
dbSNP: rs80357772
rs80357772
BRCA1
4 0.925 0.200 17 43094549 frameshift variant AT/- del 0.700 1.000 2 2004 2016
dbSNP: rs876660754
rs876660754
TP53
20 0.701 0.360 17 7675095 missense variant C/A;T snv 0.710 1.000 2 2016 2017
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2005 2009
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057517590
rs1057517590
BRCA1
2 1.000 17 43063370 frameshift variant A/- del 0.700 1.000 1 2004 2004
dbSNP: rs1057519045
rs1057519045
FGFR2
6 0.851 0.160 10 121498522 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519714
rs1057519714
ESR1
1 6 152094402 missense variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519715
rs1057519715
ESR1
2 1.000 0.080 6 152098779 missense variant T/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519716
rs1057519716
ESR1
1 6 152098782 missense variant C/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519727
rs1057519727
HERC2
1 15 28260829 missense variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519737
rs1057519737
ERBB2 ; MIR4728
1 17 39724750 inframe insertion -/GCTCCCCAG delins 0.700 1.000 1 2013 2013
dbSNP: rs1057519747
rs1057519747
TP53
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519787
rs1057519787
ERBB2
2 1.000 0.040 17 39711952 missense variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519816
rs1057519816
ERBB2
14 0.763 0.200 17 39711955 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519825
rs1057519825
BTK
7 0.882 0.120 X 101356176 missense variant C/G snv 0.700 1.000 1 2014 2014
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: rs1057519857
rs1057519857
ERBB2 ; MIR4728
4 0.882 0.080 17 39724772 missense variant T/C snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519890
rs1057519890
ERBB2
8 0.807 0.200 17 39723966 missense variant T/A snv 0.700 1.000 1 2016 2016