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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2011 2012
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2014 2014
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2014 2014
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs4649295
rs4649295
PCNX2
2 0.925 0.080 1 233280792 intron variant T/C snv 0.60 0.700 1.000 1 2017 2017
dbSNP: rs4915076
rs4915076
VAV3
3 0.882 0.080 1 107816883 intron variant T/C snv 9.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs768827923
rs768827923
PIK3CD
6 0.851 0.080 1 9721816 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs12990503
rs12990503
DIRC3
2 0.925 0.080 2 217429494 intron variant C/G snv 0.64 0.700 1.000 1 2017 2017
dbSNP: rs2048722
rs2048722
TPO
2 0.925 2 1492028 intron variant A/G snv 0.51 0.010 1.000 1 2013 2013
dbSNP: rs732609
rs732609
TPO
5 0.827 0.160 2 1496155 missense variant A/C;G snv 0.43 0.010 1.000 1 2013 2013
dbSNP: rs966423
rs966423
DIRC3
11 0.776 0.200 2 217445617 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2013 2013
dbSNP: rs371428527
rs371428527
PIK3CB
2 0.925 3 138737869 missense variant T/C;G snv 1.2E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs9858271
rs9858271
LOC105377110
2 0.925 0.080 3 59559604 intron variant G/A snv 0.80 0.700 1.000 1 2017 2017
dbSNP: rs17739370
rs17739370 		2 0.925 4 177374275 intergenic variant C/T snv 0.38 0.010 1.000 1 2016 2016
dbSNP: rs1874564
rs1874564
LOC105377294 ; LOC107986291
2 0.925 0.080 4 76936952 intergenic variant G/A snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs7689099
rs7689099
NEIL3
2 0.925 4 177335759 missense variant C/A;G;T snv 4.2E-06; 0.11; 1.7E-05 0.010 1.000 1 2016 2016
dbSNP: rs13184587
rs13184587
ARSB
2 0.925 5 78910960 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2070593
rs2070593
GPX3
6 0.827 0.120 5 151028379 3 prime UTR variant G/A;T snv 0.20 0.010 1.000 1 2009 2009
dbSNP: rs2230641
rs2230641
CCNH
8 0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17 0.010 1.000 1 2013 2013
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 0.010 < 0.001 1 2017 2017
dbSNP: rs3805435
rs3805435
GPX3 ; LOC105378228
3 0.882 0.120 5 151021735 non coding transcript exon variant T/C snv 8.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs3828599
rs3828599
GPX3 ; LOC105378228
5 0.882 0.040 5 151022235 intron variant A/G snv 0.67 0.010 1.000 1 2009 2009
dbSNP: rs8177412
rs8177412
GPX3 ; LOC105378228
5 0.851 0.160 5 151020526 5 prime UTR variant T/C snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs4946936
rs4946936
FOXO3
8 0.790 0.160 6 108682118 3 prime UTR variant T/A;C snv 0.010 1.000 1 2018 2018