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: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.100 1.000 10 2011 2018
dbSNP: rs3803300
rs3803300
6 0.827 0.120 14 104803442 3 prime UTR variant T/A;C snv 0.030 1.000 3 2012 2020
dbSNP: rs2312147
rs2312147
2 1.000 0.040 2 57995793 intron variant T/C snv 0.70 0.700 1.000 1 2014 2014
dbSNP: rs7219021
rs7219021
4 0.925 0.040 17 48763179 intron variant T/G snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs1655285
rs1655285
1 1 231563728 intron variant G/C snv 9.5E-02 0.010 1.000 1 2007 2007
dbSNP: rs1959536
rs1959536
2 1.000 0.040 14 50980053 intron variant T/G snv 9.7E-02 0.700 1.000 1 2013 2013
dbSNP: rs17110747
rs17110747
4 0.882 0.120 12 72032174 3 prime UTR variant G/A snv 0.12 0.010 1.000 1 2014 2014
dbSNP: rs4570625
rs4570625
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs12105421
rs12105421
2 1.000 0.040 2 102959630 intron variant C/T snv 7.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs2958182
rs2958182
5 0.882 0.040 18 55481790 intron variant A/T snv 0.72 0.010 1.000 1 2012 2012
dbSNP: rs17512836
rs17512836
3 0.925 0.040 18 55527730 intron variant T/C snv 2.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs9960767
rs9960767
3 0.925 0.040 18 55487771 intron variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs4583255
rs4583255
1 16 29977620 intron variant A/G snv 0.36 0.700 1.000 1 2014 2014
dbSNP: rs7872515
rs7872515
4 0.925 0.040 9 92060258 intron variant G/A snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2012 2012
dbSNP: rs6081541
rs6081541
2 1.000 0.040 20 19232246 intron variant A/G snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs2498804
rs2498804
8 0.827 0.160 14 104766758 intron variant C/A;T snv 0.40 0.33 0.010 1.000 1 2012 2012
dbSNP: rs1555910162
rs1555910162
5 0.925 0.080 22 50721469 frameshift variant -/C delins 0.700 0
dbSNP: rs12282742
rs12282742
2 11 18244252 intron variant C/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs701428
rs701428
4 1.000 0.040 22 20241019 downstream gene variant A/G snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs1555939456
rs1555939456
21 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
dbSNP: rs2709722
rs2709722
2 1.000 0.040 7 20828189 downstream gene variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs4813376
rs4813376
2 20 19870811 intron variant T/G snv 0.86 0.700 1.000 1 2010 2010
dbSNP: rs6046396
rs6046396
2 20 19871859 non coding transcript exon variant G/A snv 0.68 0.800 1.000 1 2010 2010
dbSNP: rs993804
rs993804
2 3 25070680 intron variant C/T snv 0.75 0.800 1.000 1 2010 2010