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: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.730 1.000 4 2011 2017
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.020 1.000 2 2011 2019
dbSNP: rs1039002
rs1039002
5 0.851 0.080 6 165741969 intron variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs17075286
rs17075286
2 3 43189231 intergenic variant C/G snv 5.9E-02 0.800 1.000 1 2011 2011
dbSNP: rs17645023
rs17645023
3 1.000 0.040 17 66920916 intergenic variant A/T snv 0.22 0.800 1.000 1 2011 2011
dbSNP: rs7065696
rs7065696
2 X 53947621 intron variant C/G;T snv 0.800 1.000 1 2011 2011
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: rs4309482
rs4309482
3 0.925 0.040 18 55083238 intergenic variant A/G snv 0.39 0.710 1.000 2 2012 2014
dbSNP: rs1200746244
rs1200746244
11 0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs12966547
rs12966547
7 0.827 0.040 18 55084786 intergenic variant G/A snv 0.39 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: rs17746001
rs17746001
4 0.925 0.040 4 179734472 intergenic variant C/T snv 5.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs2054399
rs2054399
4 0.925 0.040 3 178623794 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs2070106
rs2070106
CNP
4 0.925 0.160 17 41973846 synonymous variant G/A snv 0.31 0.25 0.010 1.000 1 2012 2012
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: rs2524005
rs2524005
5 0.882 0.160 6 29931900 upstream gene variant G/A snv 0.18 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: rs2857766
rs2857766
MOG
4 0.882 0.120 6 29666226 missense variant G/C snv 0.22 0.19 0.010 1.000 1 2012 2012
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: rs7872515
rs7872515
4 0.925 0.040 9 92060258 intron variant G/A snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs886424
rs886424
10 0.776 0.320 6 30814225 non coding transcript exon variant C/T snv 7.1E-02 8.7E-02 0.700 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: rs12155594
rs12155594
2 1.000 0.040 8 31749079 intron variant C/T snv 7.8E-02 0.020 1.000 2 2013 2018
dbSNP: rs1625579
rs1625579
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.020 1.000 2 2013 2014
dbSNP: rs4281084
rs4281084
2 1.000 0.040 8 31637858 upstream gene variant G/A snv 0.22 0.020 1.000 2 2013 2018