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: rs1799750
rs1799750
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2013 2013
dbSNP: rs4076018
rs4076018
1 1.000 0.040 1 115300189 intron variant A/T snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs7975253
rs7975253
1 1.000 0.040 12 121375864 intron variant C/T snv 6.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs11200638
rs11200638
14 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs470859
rs470859
1 1.000 0.040 12 128912087 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs926849
rs926849
1 1.000 0.040 6 161740587 intron variant C/T snv 0.67 0.800 1.000 1 2013 2013
dbSNP: rs2095019
rs2095019
1 1.000 0.040 6 169164779 upstream gene variant A/C snv 0.76 0.010 1.000 1 2014 2014
dbSNP: rs763110
rs763110
30 0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs5030772
rs5030772
7 0.790 0.320 1 172664210 intron variant A/G snv 9.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs4633
rs4633
25 0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45 0.010 1.000 1 2014 2014
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2012 2012
dbSNP: rs77245812
rs77245812
3 0.882 0.040 2 20003169 missense variant G/A snv 1.5E-02 1.2E-02 0.010 1.000 1 2006 2006
dbSNP: rs1800797
rs1800797
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.020 1.000 2 2011 2017
dbSNP: rs1800796
rs1800796
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 1.000 2 2011 2017
dbSNP: rs16924573
rs16924573
1 1.000 0.040 10 24315964 intron variant G/A snv 8.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs2187689
rs2187689
1 1.000 0.040 6 32884870 intergenic variant T/C snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs10046257
rs10046257
1 1.000 0.040 6 32886920 regulatory region variant G/A snv 0.15 0.800 1.000 1 2013 2013
dbSNP: rs6457690
rs6457690
1 1.000 0.040 6 32887940 intergenic variant G/A snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs1029296
rs1029296
1 1.000 0.040 6 32888604 intergenic variant T/C snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs1029295
rs1029295
1 1.000 0.040 6 32888705 intergenic variant T/C snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs6936004
rs6936004
1 1.000 0.040 6 32889157 intergenic variant T/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs10214886
rs10214886
1 1.000 0.040 6 32889642 intergenic variant T/A snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs7744666
rs7744666
1 1.000 0.040 6 32891935 upstream gene variant T/C snv 0.13 0.800 1.000 1 2013 2013
dbSNP: rs11969002
rs11969002
1 1.000 0.040 6 32891971 upstream gene variant G/A;T snv 0.800 1.000 1 2013 2013