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: rs1057519699
rs1057519699
PIK3CA
2 3 179218315 missense variant G/A snv 0.700 1.000 8 2004 2012
dbSNP: rs1057519827
rs1057519827
ESR1
1 6 152011697 missense variant G/C snv 0.700 1.000 3 2013 2014
dbSNP: rs1057519717
rs1057519717
ESR1
1 6 152098785 missense variant T/G snv 0.700 1.000 2 2013 2013
dbSNP: rs1555444543
rs1555444543
HERC2
1 15 28260816 inframe deletion GTCCAGTCCTGGCAA/- del 0.700 1.000 2 2006 2013
dbSNP: rs80357243
rs80357243
BRCA1
2 17 43063885 missense variant A/C;G snv 0.700 1.000 2 2010 2015
dbSNP: rs1057519714
rs1057519714
ESR1
1 6 152094402 missense variant T/C 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: rs1131692241
rs1131692241
ERBB2
1 17 39723966 inframe deletion TGAGGGAAAACACAT/- delins 0.700 1.000 1 2013 2013
dbSNP: rs121913285
rs121913285
PIK3CA
1 3 179218286 missense variant C/G snv 0.700 1.000 1 2014 2014
dbSNP: rs1555284442
rs1555284442
BRCA2
1 13 32340234 frameshift variant G/- del 0.700 1.000 1 2004 2004
dbSNP: rs1555582520
rs1555582520
BRCA1
1 17 43076486 splice donor variant A/G snv 0.700 1.000 1 2004 2004
dbSNP: rs1555913881
rs1555913881
CHEK2
1 22 28695841 frameshift variant T/- del 0.700 1.000 1 2004 2004
dbSNP: rs397508979
rs397508979
BRCA1
1 17 43092974 frameshift variant -/GAAAAGTGAA ins 0.700 1.000 1 2016 2016
dbSNP: rs398122710
rs398122710
BRCA2
1 13 32371100 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs752908306
rs752908306
HERC2
1 15 28272372 missense variant G/A;C snv 8.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs786202676
rs786202676
CHEK2
1 22 28696956 missense variant T/A;G snv 0.700 1.000 1 2011 2011
dbSNP: rs886037788
rs886037788
BRCA1
1 17 43091461 frameshift variant -/TCAA ins 0.700 1.000 1 2016 2016
dbSNP: rs886037789
rs886037789
BRCA1
1 17 43071159 frameshift variant T/- del 0.700 1.000 1 2016 2016
dbSNP: rs886037797
rs886037797
BRCA2
1 13 32332667 frameshift variant AACTAACC/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1131692162
rs1131692162
BRCA1
1 17 43099781 stop gained C/A snv 0.700 0
dbSNP: rs1553622530
rs1553622530
BARD1
1 2 214781220 stop gained C/T snv 0.700 0
dbSNP: rs1554897879
rs1554897879
PTEN
1 10 87931085 stop gained C/A snv 0.700 0
dbSNP: rs1555114766
rs1555114766
ATM ; C11orf65
1 11 108317486 stop gained G/A snv 0.700 0