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: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.020 0.500 2 2008 2015
dbSNP: rs1805096
rs1805096
6 0.827 0.200 1 65636574 synonymous variant G/A snv 0.46 0.43 0.010 1.000 1 2016 2016
dbSNP: rs1805134
rs1805134
2 0.925 0.160 1 65601426 synonymous variant T/C snv 0.22 0.24 0.010 1.000 1 2016 2016
dbSNP: rs2076349
rs2076349
3 0.882 0.120 1 209626885 missense variant C/T snv 0.13 0.13 0.010 1.000 1 2016 2016
dbSNP: rs201408477
rs201408477
2 0.925 0.080 2 25161455 missense variant A/G snv 1.8E-04 1.6E-04 0.010 1.000 1 2015 2015
dbSNP: rs4148325
rs4148325
11 0.851 0.080 2 233764663 intron variant C/T snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs7566605
rs7566605
11 0.752 0.320 2 118078449 regulatory region variant C/G snv 0.70 0.010 1.000 1 2008 2008
dbSNP: rs587777230
rs587777230
4 0.851 0.120 3 196707811 stop gained G/A snv 2.1E-05 0.020 0.500 2 2017 2018
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2012 2012
dbSNP: rs3856806
rs3856806
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.010 1.000 1 2012 2012
dbSNP: rs917346005
rs917346005
2 0.925 0.080 3 85912502 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1800571
rs1800571
2 0.925 0.080 3 12381349 missense variant C/A snv 1.4E-05 0.700 0
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2016 2018
dbSNP: rs12510549
rs12510549
4 0.882 0.160 4 10274843 intergenic variant T/C snv 0.18 0.010 1.000 1 2008 2008
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 1.000 1 2001 2001
dbSNP: rs35859249
rs35859249
6 0.807 0.200 4 37902468 missense variant C/A;T snv 4.0E-06; 9.7E-02 0.010 1.000 1 2008 2008
dbSNP: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs6449213
rs6449213
7 0.827 0.240 4 9992591 intron variant C/T snv 0.82 0.010 1.000 1 2008 2008
dbSNP: rs750845408
rs750845408
2 0.925 0.080 5 96423317 missense variant T/C snv 4.5E-05 7.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs1800949
rs1800949
1 1.000 0.080 6 131807424 upstream gene variant C/G;T snv 0.18 0.010 1.000 1 2008 2008
dbSNP: rs757139012
rs757139012
3 0.882 0.080 6 100390522 missense variant T/C snv 8.0E-06; 4.0E-06 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs943003
rs943003
3 0.882 0.120 6 131819872 non coding transcript exon variant C/T snv 0.64 0.010 1.000 1 2008 2008
dbSNP: rs10487818
rs10487818
1 1.000 0.080 7 106269615 intron variant A/T snv 1.1E-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 0.020 1.000 2 1997 2007