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: rs28933370
rs28933370
ERBB2 ; MIR4728
3 0.882 0.120 17 39725125 missense variant A/G snv 7.0E-06 0.700 1.000 5 2004 2013
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 1.000 3 2010 2018
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: rs9303542
rs9303542
SKAP1
3 0.882 0.120 17 48334138 intron variant A/G snv 0.34 0.700 1.000 2 2010 2013
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs11782652
rs11782652
CHMP4C
4 0.851 0.120 8 81741409 intron variant A/G snv 6.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs12379183
rs12379183
BNC2
1 1.000 0.120 9 16865701 intron variant A/G snv 0.26 0.700 1.000 1 2009 2009
dbSNP: rs12451939
rs12451939
MED13
1 1.000 0.120 17 61970281 intron variant A/G snv 2.6E-02 0.700 1.000 1 2011 2011
dbSNP: rs13281615
rs13281615
POU5F1B ; CASC8 ; PCAT1 ; CASC21
18 0.716 0.360 8 127343372 intron variant A/G snv 0.43 0.010 < 0.001 1 2017 2017
dbSNP: rs1467465
rs1467465
THEMIS2
7 0.827 0.160 1 27884892 non coding transcript exon variant A/G snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs1469713
rs1469713
GATAD2A
7 0.827 0.160 19 19417997 intron variant A/G snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs1516982
rs1516982
LINC00824
3 0.882 0.120 8 128521400 intron variant A/G snv 0.16 0.010 1.000 1 2012 2012
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: rs181206
rs181206
IL27
16 0.742 0.440 16 28502082 missense variant A/G snv 0.28 0.24 0.010 1.000 1 2016 2016
dbSNP: rs1950902
rs1950902
MTHFD1
11 0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83 0.010 1.000 1 2014 2014
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: rs2228026
rs2228026
TEP1
3 0.882 0.120 14 20395890 synonymous variant A/G snv 4.7E-02 3.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs2297235
rs2297235
GSTO2
11 0.752 0.320 10 104274733 5 prime UTR variant A/G snv 0.22 0.010 1.000 1 2010 2010
dbSNP: rs2981582
rs2981582
FGFR2
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs3025033
rs3025033
VEGFA
6 0.807 0.360 6 43783338 non coding transcript exon variant A/G snv 0.18 0.010 < 0.001 1 2010 2010
dbSNP: rs3803662
rs3803662
CASC16
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.010 1.000 1 2009 2009
dbSNP: rs4648068
rs4648068
NFKB1
9 0.790 0.240 4 102597148 intron variant A/G snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2016 2016
dbSNP: rs80356897
rs80356897
BRCA1
5 0.827 0.160 17 43099853 missense variant A/G snv 0.010 1.000 1 2019 2019