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: rs1088967
rs1088967 		4 0.851 0.080 X 127010099 intergenic variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.070 1.000 7 2006 2013
dbSNP: rs150742660
rs150742660
SCO2 ; NCAPH2
3 0.925 0.080 22 50523735 missense variant A/G snv 8.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs2071746
rs2071746
HMOX1
18 0.708 0.320 22 35380679 intron variant A/T snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs2236142
rs2236142
CHEK2 ; HSCB
6 0.827 0.120 22 28741956 5 prime UTR variant G/C snv 0.66 0.010 1.000 1 2018 2018
dbSNP: rs373001
rs373001
MIR130B ; MIR301B
2 0.925 0.080 22 21653137 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3747093
rs3747093
YDJC
16 0.732 0.200 22 21630090 upstream gene variant G/A snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs5762748
rs5762748
CHEK2
2 0.925 0.080 22 28694902 intron variant G/A snv 6.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs5995355
rs5995355
NCF4-AS1
2 0.925 0.080 22 36855419 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs9620817
rs9620817
CHEK2
4 0.851 0.120 22 28712568 intron variant A/T snv 8.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs1237063529
rs1237063529
CBS
13 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2002 2002
dbSNP: rs4998557
rs4998557
SOD1
4 0.851 0.080 21 31662579 intron variant G/A snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.020 0.500 2 2006 2014
dbSNP: rs1459997671
rs1459997671
MMP9
3 0.882 0.120 20 46010963 synonymous variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1799990
rs1799990
PRNP
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 1.000 1 2010 2010
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2012 2012
dbSNP: rs3918242
rs3918242
MMP9
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs4925386
rs4925386
LAMA5
14 0.776 0.080 20 62345988 intron variant T/C snv 0.56 0.010 1.000 1 2016 2016
dbSNP: rs758272654
rs758272654
GNAS
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.867 15 2004 2015
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.080 0.750 8 2005 2016
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.080 0.875 8 2009 2016
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.060 0.833 6 2012 2020