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: rs80357522
rs80357522
BRCA1
10 0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 0.700 0
dbSNP: rs483353077
rs483353077
BRCA2
3 1.000 13 32370470 frameshift variant TTT/AAAA;NNNN delins 0.700 0
dbSNP: rs1555599208
rs1555599208
BRCA1
2 1.000 17 43115726 stop gained TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- del 0.700 1.000 1 2016 2016
dbSNP: rs397507643
rs397507643
BRCA2
2 1.000 13 32337181 frameshift variant TTAA/- delins 0.700 1.000 1 2004 2004
dbSNP: rs121913469
rs121913469
ERBB2
11 0.763 0.240 17 39723966 missense variant TT/CC mnv 0.700 1.000 1 2016 2016
dbSNP: rs886037800
rs886037800
BRCA2
2 1.000 13 32338395 frameshift variant TT/-;TTT delins 0.700 1.000 1 2016 2016
dbSNP: rs1131692241
rs1131692241
ERBB2
1 17 39723966 inframe deletion TGAGGGAAAACACAT/- delins 0.700 1.000 1 2013 2013
dbSNP: rs80357787
rs80357787
BRCA1
4 0.925 0.200 17 43091008 frameshift variant TC/- delins 0.700 1.000 1 2004 2004
dbSNP: rs886037785
rs886037785
BRCA1
2 1.000 17 43091708 frameshift variant TACCT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1555280073
rs1555280073
BRCA2
1 13 32316454 start lost TAAAAATGCCTATTGG/- delins 0.700 0
dbSNP: rs886037803
rs886037803
BRCA2
2 1.000 13 32338188 frameshift variant TA/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1057519717
rs1057519717
ESR1
1 6 152098785 missense variant T/G snv 0.700 1.000 2 2013 2013
dbSNP: rs1057519045
rs1057519045
FGFR2
6 0.851 0.160 10 121498522 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519901
rs1057519901
FGFR2
5 0.925 0.080 10 121498525 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: rs1273593548
rs1273593548
PIK3CG
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs17506395
rs17506395
TP63
3 0.925 0.080 3 189803530 intron variant T/G snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2017 2017
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
12 0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 0.700 0
dbSNP: rs121913470
rs121913470
ERBB2
13 0.776 0.200 17 39723967 missense variant T/C;G snv 0.700 1.000 5 2008 2016
dbSNP: rs121913272
rs121913272
PIK3CA
13 0.752 0.400 3 179210192 missense variant T/C;G snv 0.700 1.000 2 2014 2016
dbSNP: rs1057519941
rs1057519941
PIK3CA
10 0.776 0.240 3 179203761 missense variant 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