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: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2006 2006
dbSNP: rs2229291
rs2229291
8 0.827 0.200 1 53210729 missense variant T/G snv 2.3E-02 1.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 < 0.001 1 2017 2017
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 < 0.001 1 2019 2019
dbSNP: rs1468575151
rs1468575151
2 0.925 0.080 3 52668520 missense variant T/C snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 < 0.001 1 2019 2019
dbSNP: rs7744020
rs7744020
3 0.882 0.160 6 32658353 upstream gene variant G/A snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs9271117
rs9271117
2 0.925 0.160 6 32609018 intergenic variant C/T snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs1048479
rs1048479
1 1.000 0.080 8 133461905 synonymous variant C/T snv 0.51 0.47 0.010 1.000 1 2015 2015
dbSNP: rs113350588
rs113350588
1 1.000 0.080 8 133475740 synonymous variant G/A snv 1.6E-04 1.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 1.000 2 2011 2013
dbSNP: rs12252
rs12252
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.100 0.833 18 2012 2019
dbSNP: rs34481144
rs34481144
1 1.000 0.080 11 320836 5 prime UTR variant C/T snv 0.36 0.34 0.010 1.000 1 2017 2017
dbSNP: rs773340854
rs773340854
3 0.882 0.200 16 88824828 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs8072510
rs8072510
1 1.000 0.080 17 35445639 stop gained G/T snv 9.5E-02 9.9E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs763362
rs763362
1 1.000 0.080 18 69864561 intron variant A/G snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.010 1.000 1 2014 2014