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: rs387906223
rs387906223
KLHDC8B
1 1.000 0.120 3 49171662 5 prime UTR variant C/T snv 4.8E-03 0.700 0
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: rs2069757
rs2069757
TH2LCRR
1 1.000 0.120 5 132662721 intron variant G/A snv 7.5E-02 0.800 1.000 1 2014 2014
dbSNP: rs2248462
rs2248462 		10 0.807 0.240 6 31479019 downstream gene variant G/A snv 0.19 0.800 1.000 1 2012 2012
dbSNP: rs2608053
rs2608053
PVT1
1 1.000 0.120 8 128063586 intron variant T/C snv 0.50 0.800 1.000 1 2010 2010
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: rs6439924
rs6439924
CLSTN2 ; LOC105374132
1 1.000 0.120 3 140450815 intron variant A/C snv 0.21 0.800 1.000 1 2014 2014
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: rs649775
rs649775 		3 0.882 0.120 6 33716536 upstream gene variant A/G;T snv 0.710 1.000 1 2018 2018
dbSNP: rs1002658
rs1002658 		1 1.000 0.120 6 137660447 intron variant C/T snv 0.15 0.700 1.000 1 2018 2018
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: rs1244186
rs1244186
GATA3 ; GATA3-AS1
1 1.000 0.120 10 8050720 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs12638862
rs12638862 		10 0.827 0.160 3 169759718 downstream gene variant A/G snv 0.24 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: rs13195441
rs13195441 		2 0.925 0.200 6 32775521 intergenic variant G/A snv 0.30 0.700 1.000 1 2013 2013
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: 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: rs181997
rs181997 		2 0.925 0.160 6 32932941 downstream gene variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs204993
rs204993
PBX2
5 0.851 0.240 6 32187804 intron variant A/G snv 0.24 0.26 0.700 1.000 1 2013 2013
dbSNP: rs204999
rs204999 		13 0.763 0.480 6 32142202 intergenic variant A/G snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs210143
rs210143
BAK1 ; GGNBP1
6 0.827 0.160 6 33579153 intron variant T/C snv 0.74 0.700 1.000 1 2017 2017
dbSNP: rs2240064
rs2240064
CCHCR1
1 1.000 0.120 6 31146796 intron variant G/A;T snv 0.700 1.000 1 2013 2013