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: 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: rs17561
rs17561
IL1A
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 1.000 1 2014 2014
dbSNP: rs1836724
rs1836724
ERBB4
6 0.807 0.240 2 211380227 3 prime UTR variant G/A snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs2227982
rs2227982
PDCD1 ; LOC105373977
24 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs267607911
rs267607911
MSH2
8 0.851 0.200 2 47403192 start lost A/C;G;T snv 5.1E-05; 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs28997576
rs28997576
BARD1
11 0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 0.010 1.000 1 2006 2006
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: rs6165
rs6165
FSHR
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.010 1.000 1 2009 2009
dbSNP: rs6886
rs6886
CAPG
4 0.925 0.160 2 85394936 missense variant T/A;C snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs121913403
rs121913403
CTNNB1
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.700 1.000 3 2008 2013
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.710 1.000 2 2004 2016
dbSNP: rs2660753
rs2660753 		9 0.790 0.240 3 87061524 intergenic variant T/C snv 0.76 0.020 0.500 2 2008 2011
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: rs876658657
rs876658657
MLH1
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.020 1.000 2 2015 2019
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2015 2015
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: rs13063604
rs13063604
RUVBL1
3 0.882 0.120 3 128085887 intron variant G/A snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs17251221
rs17251221
CASR
18 0.724 0.360 3 122274400 intron variant A/G snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs1799977
rs1799977
MLH1
28 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs1989839
rs1989839
RASSF1 ; ZMYND10
8 0.790 0.160 3 50341515 intron variant A/G snv 0.22 0.20 0.010 1.000 1 2018 2018
dbSNP: rs2073495
rs2073495
LTF
4 0.851 0.200 3 46439467 missense variant C/A;G snv 4.9E-04; 0.33 0.010 1.000 1 2011 2011
dbSNP: rs2304277
rs2304277
OGG1 ; CAMK1
8 0.776 0.280 3 9759396 non coding transcript exon variant G/A snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs2699887
rs2699887
PIK3CA ; LOC101928739
11 0.763 0.280 3 179148620 intron variant C/T snv 0.18 0.010 1.000 1 2019 2019