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: rs146486358
rs146486358
3 0.882 0.080 7 102205168 missense variant C/T snv 8.6E-04 3.0E-04 0.010 1.000 1 2011 2011
dbSNP: rs3787283
rs3787283
3 0.882 0.040 20 10303770 intron variant A/G snv 0.34 0.010 1.000 1 2015 2015
dbSNP: rs3746544
rs3746544
10 0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs11990063
rs11990063
3 0.925 0.040 8 10307685 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1961982
rs1961982
2 0.925 0.040 12 103218955 intergenic variant G/A snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs188843168
rs188843168
3 0.925 0.040 10 103390184 intron variant T/A;C snv 4.3E-04 0.700 1.000 1 2016 2016
dbSNP: rs10884216
rs10884216
2 0.925 0.040 10 105701367 intergenic variant T/C snv 0.17 0.700 1.000 1 2016 2016
dbSNP: rs68081839
rs68081839
3 0.882 0.080 11 105762027 intron variant TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTT delins 0.010 1.000 1 2018 2018
dbSNP: rs7555693
rs7555693
3 0.925 0.040 1 106295917 intergenic variant G/A snv 0.45 0.700 1.000 1 2018 2018
dbSNP: rs35792458
rs35792458
3 0.925 0.040 8 10964921 intron variant G/C snv 0.53 0.700 1.000 1 2018 2018
dbSNP: rs4839421
rs4839421
3 0.925 0.040 1 110479338 intron variant C/A snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs17158930
rs17158930
4 0.851 0.040 7 111871082 intron variant A/G snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs77826363
rs77826363
3 0.882 0.040 6 1128802 intergenic variant G/T snv 2.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2013 2013
dbSNP: rs6276
rs6276
8 0.807 0.320 11 113410675 3 prime UTR variant C/T snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 < 0.001 1 2013 2013
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2008 2008
dbSNP: rs10447760
rs10447760
4 0.851 0.040 7 114083210 upstream gene variant C/T snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs139459337
rs139459337
3 0.882 0.040 3 114997018 intron variant C/T snv 4.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs112106319
rs112106319
3 0.925 0.040 9 115094539 intron variant A/T snv 2.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs10809520
rs10809520
2 0.925 0.040 9 11557797 intergenic variant C/T snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs195478
rs195478
2 0.925 0.040 6 115851928 intergenic variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs7294919
rs7294919
4 0.851 0.080 12 116889787 regulatory region variant T/C snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs10233018
rs10233018
2 0.925 0.040 7 117883655 non coding transcript exon variant A/G snv 0.53 0.700 1.000 1 2016 2016