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: rs752742313
rs752742313
PIK3CB
36 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs752021744
rs752021744
PIK3CB
29 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs4954956
rs4954956 		3 0.882 0.120 2 138787007 regulatory region variant C/T snv 0.25 0.010 1.000 1 2009 2009
dbSNP: rs1057519865
rs1057519865
FOXL2 ; FOXL2NB
15 0.742 0.240 3 138946321 missense variant G/C snv 0.010 1.000 1 2016 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.060 1.000 6 2007 2015
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.060 1.000 6 2007 2015
dbSNP: rs121913340
rs121913340
BRAF
1 1.000 0.120 7 140753379 missense variant C/T snv 0.700 0
dbSNP: rs7727832
rs7727832
FGF1 ; SPRY4-AS1
3 0.882 0.120 5 142611975 intron variant C/T snv 0.10 0.010 1.000 1 2014 2014
dbSNP: rs113954997
rs113954997
RRAS2
3 0.882 0.280 11 14294844 missense variant T/A;C snv 0.700 0
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2002 2002
dbSNP: rs11683487
rs11683487
NMI
3 0.882 0.120 2 151286035 intron variant G/T snv 0.36 0.010 1.000 1 2009 2009
dbSNP: rs904571820
rs904571820
ESR1
5 0.851 0.160 6 151842664 start lost A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs3218536
rs3218536
XRCC2
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.060 0.833 6 2013 2016
dbSNP: rs587780128
rs587780128
XRCC2
3 0.882 0.160 7 152649010 missense variant G/A snv 1.2E-05 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs2665390
rs2665390
TIPARP ; LOC107986148
8 0.776 0.160 3 156679960 intron variant C/T snv 0.92 0.710 1.000 2 2010 2012
dbSNP: rs7651446
rs7651446
TIPARP
3 0.882 0.120 3 156689208 intron variant G/T snv 7.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs953038635
rs953038635
SOD2
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.020 0.500 2 2008 2012
dbSNP: rs3737787
rs3737787
USF1 ; TSTD1
11 0.763 0.280 1 161039733 3 prime UTR variant G/A snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs2516839
rs2516839
USF1
14 0.732 0.320 1 161043331 5 prime UTR variant C/T snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs1339552
rs1339552
BNC2
1 1.000 0.120 9 16848792 intron variant C/T snv 0.52 0.700 1.000 1 2009 2009
dbSNP: rs4961501
rs4961501
BNC2
1 1.000 0.120 9 16851680 intron variant T/A;C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs12379687
rs12379687
BNC2
1 1.000 0.120 9 16854369 intron variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1416742
rs1416742
BNC2
1 1.000 0.120 9 16856885 intron variant G/A snv 0.43 0.700 1.000 1 2009 2009
dbSNP: rs10756819
rs10756819
BNC2
1 1.000 0.120 9 16858086 intron variant G/A;C;T snv 0.700 1.000 1 2009 2009