Source: CLINVAR ×
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: rs121913279
rs121913279
PIK3CA
45 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.740 1.000 10 2004 2016
dbSNP: rs104886003
rs104886003
PIK3CA
34 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.710 1.000 12 2004 2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
36 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.710 1.000 2 2014 2017
dbSNP: rs121909229
rs121909229
PTEN
23 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.710 1.000 1 2016 2016
dbSNP: rs17849781
rs17849781
TP53
14 0.701 0.480 17 7673788 missense variant G/A;C;T snv 0.710 1.000 1 2014 2016
dbSNP: rs28934874
rs28934874
TP53
21 0.695 0.480 17 7675161 missense variant G/A;C;T snv 0.710 1.000 1 2014 2016
dbSNP: rs760043106
rs760043106
TP53
18 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.710 1.000 1 2016 2016
dbSNP: rs876660754
rs876660754
TP53
18 0.701 0.360 17 7675095 missense variant C/A;T snv 0.710 1.000 1 2016 2017
dbSNP: rs121912664
rs121912664
TP53
7 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.710 1.000 0 2013 2013
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
21 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 12 2004 2016
dbSNP: rs121913274
rs121913274
PIK3CA
28 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.700 1.000 10 2004 2016
dbSNP: rs121913286
rs121913286
PIK3CA
20 0.677 0.280 3 179218306 missense variant C/A;G snv 0.700 1.000 9 2004 2016
dbSNP: rs397517201
rs397517201
PIK3CA
14 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: rs137853011
rs137853011
CHEK2
10 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 1.000 7 2005 2016
dbSNP: rs121913470
rs121913470
ERBB2
7 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
24 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
5 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
3 0.807 0.120 17 39724747 missense variant G/A;C;T snv 0.700 1.000 4 2011 2016
dbSNP: rs1057519738
rs1057519738
ERBB2 ; MIR4728
7 0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06 0.700 1.000 3 2006 2016
dbSNP: rs1057519827
rs1057519827
ESR1
1 6 152011697 missense variant G/C snv 0.700 1.000 3 2013 2014
dbSNP: rs11540652
rs11540652
TP53
42 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 3 1998 2016