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: rs10818854
rs10818854
6 0.851 0.200 9 123684499 intron variant G/A snv 5.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs10986105
rs10986105
2 0.925 0.200 9 123787676 intron variant T/G snv 6.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs12478601
rs12478601
5 0.851 0.200 2 43494369 intron variant C/T snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs13405728
rs13405728
8 0.790 0.200 2 48751020 intron variant A/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs13429458
rs13429458
6 0.827 0.200 2 43411699 intron variant A/C snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs17782313
rs17782313
34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs1799964
rs1799964
47 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs2059807
rs2059807
7 0.851 0.200 19 7166098 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2414096
rs2414096
3 0.882 0.240 15 51237582 intron variant G/A snv 0.40 0.010 1.000 1 2009 2009
dbSNP: rs2930961
rs2930961
2 0.925 0.200 8 94431578 3 prime UTR variant T/C snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs4385527
rs4385527
6 0.827 0.280 9 94886305 intron variant G/A snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs8111699
rs8111699
6 0.851 0.200 19 1209715 intron variant C/G snv 0.53 0.010 1.000 1 2010 2010
dbSNP: rs1801278
rs1801278
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.010 1.000 1 2002 2002
dbSNP: rs1489441940
rs1489441940
2 0.925 0.200 20 50510548 missense variant C/G;T snv 6.4E-06; 4.5E-05 0.010 1.000 1 2004 2004
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 < 0.001 1 2010 2010
dbSNP: rs2491132
rs2491132
3 0.925 0.240 1 30876800 missense variant C/A;G;T snv 8.3E-06; 0.15 0.010 1.000 1 2009 2009
dbSNP: rs6471
rs6471
24 0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03 0.010 1.000 1 1999 1999
dbSNP: rs6688832
rs6688832
10 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.020 1.000 2 2012 2015
dbSNP: rs140510483
rs140510483
1 1.000 0.160 11 35206198 missense variant A/G snv 4.4E-03 1.4E-03 0.010 1.000 1 2009 2009
dbSNP: rs2281939
rs2281939
9 0.790 0.320 10 95414595 missense variant T/C snv 8.2E-02 0.13 0.010 1.000 1 2003 2003
dbSNP: rs2282440
rs2282440
4 0.882 0.240 1 30874473 missense variant G/A;C snv 9.3E-02 0.010 1.000 1 2009 2009
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 < 0.001 1 2000 2000
dbSNP: rs34603401
rs34603401
4 0.882 0.280 1 9245386 missense variant A/C snv 0.12 0.10 0.010 1.000 1 2012 2012
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.020 1.000 2 2002 2009