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: rs80357973
rs80357973
BRCA1
4 0.925 0.200 17 43045793 splice acceptor variant CCAATTGC/-;CCAATTGCCCAATTGC delins 0.700 1.000 13 1976 2016
dbSNP: rs121913273
rs121913273
PIK3CA
44 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 12 2004 2016
dbSNP: rs121913274
rs121913274
PIK3CA
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.700 1.000 10 2004 2016
dbSNP: rs121913286
rs121913286
PIK3CA
23 0.677 0.280 3 179218306 missense variant C/A;G snv 0.700 1.000 9 2004 2016
dbSNP: rs397517201
rs397517201
PIK3CA
16 0.732 0.240 3 179218307 missense variant A/C;G;T snv 0.700 1.000 9 2004 2016
dbSNP: rs1057519699
rs1057519699
PIK3CA
2 3 179218315 missense variant G/A snv 0.700 1.000 8 2004 2012
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: rs1057519724
rs1057519724
PTEN
3 1.000 0.080 10 87933236 missense variant G/A;T snv 0.700 1.000 4 1999 2010
dbSNP: rs121909219
rs121909219
PTEN
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 1.000 4 1999 2010
dbSNP: rs121913289
rs121913289
PTEN
4 1.000 0.080 10 87958013 frameshift variant A/- delins 0.700 1.000 4 1999 2010
dbSNP: rs121913468
rs121913468
ERBB2
7 0.827 0.160 17 39724008 missense variant G/A;C;T snv 0.700 1.000 4 2006 2016
dbSNP: rs121913471
rs121913471
ERBB2 ; MIR4728
8 0.807 0.120 17 39724747 missense variant G/A;C;T snv 0.700 1.000 4 2011 2016
dbSNP: rs796065354
rs796065354
ESR1
9 0.882 0.080 6 151944320 missense variant A/G snv 0.040 1.000 4 2005 2009
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.710 1.000 3 2014 2017
dbSNP: rs1057519827
rs1057519827
ESR1
2 6 152011697 missense variant G/C snv 0.700 1.000 3 2013 2014
dbSNP: rs121913348
rs121913348
BRAF
20 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 3 2002 2014
dbSNP: rs1057519717
rs1057519717
ESR1
1 6 152098785 missense variant T/G snv 0.700 1.000 2 2013 2013
dbSNP: rs11249433
rs11249433
EMBP1
9 0.827 0.160 1 121538815 intron variant A/C;G snv 0.020 1.000 2 2010 2014
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2005 2009
dbSNP: rs121909229
rs121909229
PTEN
23 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.710 1.000 2 2016 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: rs121913282
rs121913282
PIK3CA
4 0.882 0.040 3 179221072 missense variant A/C snv 0.700 1.000 2 2005 2014
dbSNP: rs121913284
rs121913284
PIK3CA
11 0.776 0.160 3 179203765 missense variant T/A;G snv 0.700 1.000 2 2014 2016
dbSNP: rs121913287
rs121913287
PIK3CA
12 0.752 0.400 3 179199088 missense variant G/A snv 0.700 1.000 2 2014 2016
dbSNP: rs1555444543
rs1555444543
HERC2
1 15 28260816 inframe deletion GTCCAGTCCTGGCAA/- del 0.700 1.000 2 2006 2013