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: rs9257809
rs9257809
10 0.790 0.320 6 29388554 intron variant A/G snv 5.8E-02 0.820 1.000 4 2012 2017
dbSNP: rs3784262
rs3784262
6 0.882 0.160 15 57960908 intron variant T/A;C snv 0.820 0.667 3 2013 2016
dbSNP: rs9936833
rs9936833
6 0.882 0.160 16 86369512 intergenic variant C/T snv 0.64 0.820 1.000 3 2012 2017
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2005 2008
dbSNP: rs2687201
rs2687201
6 0.925 0.080 3 70879779 intergenic variant A/C;G snv 0.710 1.000 2 2013 2015
dbSNP: rs2701108
rs2701108
2 0.925 0.160 12 114236456 downstream gene variant T/C snv 0.35 0.020 0.500 2 2015 2016
dbSNP: rs3072
rs3072
2 0.925 0.160 2 20678646 3 prime UTR variant T/C snv 0.30 0.020 0.500 2 2015 2016
dbSNP: rs10108511
rs10108511
2 0.925 0.080 8 11578007 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs10419226
rs10419226
5 0.925 0.080 19 18692362 intron variant T/G snv 0.67 0.800 1.000 1 2013 2013
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2010 2010
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs11631094
rs11631094
1 1.000 0.080 15 34332237 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11789015
rs11789015
6 0.882 0.080 9 93953746 intron variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs11901649
rs11901649
3 0.882 0.080 2 21027351 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1202989817
rs1202989817
18 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs1247942
rs1247942
2 0.925 0.080 12 114235918 downstream gene variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1263178238
rs1263178238
2 0.925 0.080 19 51338047 missense variant T/C snv 2.6E-05 4.9E-05 0.010 1.000 1 2016 2016
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2005 2005
dbSNP: rs150885638
rs150885638
1 1.000 0.080 10 77842176 missense variant T/C snv 6.1E-04 3.5E-04 0.010 1.000 1 2008 2008
dbSNP: rs1548445
rs1548445
1 1.000 0.080 16 19680261 intron variant A/G snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2009 2009
dbSNP: rs17451754
rs17451754
2 0.925 0.080 7 117616658 intron variant G/A snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs17749155
rs17749155
2 0.925 0.080 8 10210563 intron variant G/A snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 < 0.001 1 2008 2008