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: rs13255292
rs13255292
PVT1
2 0.925 0.120 8 128064327 intron variant C/T snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs181997
rs181997 		2 0.925 0.160 6 32932941 downstream gene variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs2242660
rs2242660
PRRC2A
2 0.925 0.160 6 31629976 intron variant G/A snv 0.46 0.700 1.000 1 2013 2013
dbSNP: rs3129214
rs3129214 		2 0.925 0.160 6 33149481 downstream gene variant C/T snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs3129223
rs3129223
HCG24 ; LOC105375021
2 0.925 0.160 6 33145420 intron variant C/T snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs3129234
rs3129234
HCG24 ; LOC105375021
2 0.925 0.160 6 33143570 upstream gene variant C/T snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs34972832
rs34972832
CLEC16A
2 0.925 0.120 16 11105081 intron variant G/A;T snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs3806624
rs3806624
EOMES
2 0.925 0.200 3 27723132 upstream gene variant A/G snv 0.61 0.800 1.000 1 2013 2013
dbSNP: rs4959089
rs4959089 		2 0.925 0.200 6 32251948 upstream gene variant A/G snv 0.22 0.700 1.000 1 2013 2013
dbSNP: rs6901221
rs6901221 		2 0.925 0.160 6 33130499 downstream gene variant A/C snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs6928977
rs6928977
AHI1
2 0.925 0.120 6 135305210 intron variant T/G snv 0.70 0.700 1.000 1 2017 2017
dbSNP: rs756440
rs756440 		2 0.925 0.160 6 33154554 intergenic variant A/G snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs7745098
rs7745098
HBS1L
2 1.000 0.120 6 135093866 intron variant C/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs7754200
rs7754200
HLA-DPA3 ; HCG24 ; LOC105375021
2 0.925 0.160 6 33143156 intron variant A/G snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs1860661
rs1860661
TCF3
3 0.882 0.120 19 1650135 intron variant A/C;G snv 6.7E-06; 0.54 0.810 1.000 1 2014 2014
dbSNP: rs3781093
rs3781093
GATA3
3 0.882 0.120 10 8059964 intron variant T/C snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs649775
rs649775 		3 0.882 0.120 6 33716536 upstream gene variant A/G;T snv 0.710 1.000 1 2018 2018
dbSNP: rs805294
rs805294
MPIG6B ; LY6G6C
3 0.882 0.240 6 31720440 intron variant A/G snv 0.48 0.700 1.000 1 2013 2013
dbSNP: rs1046089
rs1046089
PRRC2A
4 0.882 0.200 6 31635190 missense variant G/A snv 0.36 0.40 0.700 1.000 1 2013 2013
dbSNP: rs11715604
rs11715604
NCK1
4 0.851 0.160 3 136870707 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12711846
rs12711846
ACOXL ; ACOXL-AS1 ; MIR4435-2HG
4 0.851 0.160 2 111098716 non coding transcript exon variant A/G snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs131821
rs131821
NCAPH2
4 0.851 0.160 22 50511648 intron variant T/-;TT;TTT;TTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs149207840
rs149207840
SP140
4 0.851 0.160 2 230279864 intron variant CTGCCTC/-;CTGCCTCCTGCCTC delins 0.15 0.700 1.000 1 2017 2017
dbSNP: rs181181503
rs181181503
LOC100507377
4 0.851 0.160 12 74276187 intron variant T/C snv 1.5E-03 0.700 1.000 1 2017 2017
dbSNP: rs2292779
rs2292779
AGO2
4 0.851 0.320 8 140551294 intron variant G/C;T snv 0.57; 4.9E-06 0.010 1.000 1 2018 2018