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: rs999737
rs999737
RAD51B
8 0.776 0.200 14 68567965 intron variant C/T snv 0.16 0.770 0.909 11 2009 2017
dbSNP: rs9989661
rs9989661
LMTK3
2 0.925 0.080 19 48510834 intron variant T/C snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs997669
rs997669
CCNE1
2 0.925 0.080 19 29813576 intron variant T/C snv 0.30 0.010 1.000 1 2008 2008
dbSNP: rs9959491
rs9959491 		1 1.000 0.080 18 27826891 intergenic variant C/T snv 0.61 0.700 1.000 1 2017 2017
dbSNP: rs995922697
rs995922697
GPX1
15 0.724 0.560 3 49357413 missense variant A/G snv 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs9954058
rs9954058
SETBP1
1 1.000 0.080 18 44831838 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs9952980
rs9952980
SLC14A2
1 1.000 0.080 18 45308832 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs9940645
rs9940645
ZNF423
2 0.925 0.080 16 49797677 intron variant A/G snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.040 0.750 4 2013 2017
dbSNP: rs9913477
rs9913477
BAIAP2
2 0.925 0.080 17 81041898 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs9904341
rs9904341
BIRC5
20 0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 0.020 1.000 2 2018 2019
dbSNP: rs9900506
rs9900506
RPTOR
2 0.925 0.080 17 80648576 intron variant G/A snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs989902
rs989902
PTPN13
12 0.742 0.240 4 86785353 missense variant T/G snv 0.42 0.53 0.010 1.000 1 2013 2013
dbSNP: rs9888739
rs9888739
ITGAM
3 0.882 0.120 16 31301932 intron variant C/T snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs9884765
rs9884765 		1 1.000 0.080 4 91717049 intergenic variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs9879992
rs9879992
GSK3B
4 0.882 0.120 3 119993874 intron variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs987525
rs987525
CCDC26
7 0.807 0.160 8 128933908 intron variant C/A snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs9874
rs9874
SELENOS
2 0.925 0.080 15 101271199 3 prime UTR variant T/C snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs985325188
rs985325188
APEX1 ; OSGEP
4 0.851 0.080 14 20456806 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs984257990
rs984257990
IGF2 ; MIR483 ; INS-IGF2
3 0.925 0.080 11 2135495 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs9839776
rs9839776
SOX2-OT
4 0.851 0.160 3 181593779 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs9837602
rs9837602
FILIP1L ; CMSS1
1 1.000 0.080 3 100105841 intron variant G/A snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs9834244
rs9834244 		10 0.776 0.120 3 151704793 intergenic variant G/A snv 6.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs9833888
rs9833888
FILIP1L ; CMSS1
1 1.000 0.080 3 100004736 intron variant G/T snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs981782
rs981782
HCN1
4 0.851 0.080 5 45285616 intron variant A/C snv 0.34 0.030 1.000 3 2012 2016