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: rs6330
rs6330
12 0.763 0.240 1 115286692 missense variant G/A snv 0.37 0.36 0.010 1.000 1 2015 2015
dbSNP: rs4730751
rs4730751
4 0.882 0.120 7 116540796 intron variant C/A snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs2266788
rs2266788
19 0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93 0.010 1.000 1 2014 2014
dbSNP: rs662799
rs662799
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2005 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2005 2019
dbSNP: rs10068737
rs10068737
1 5 118700852 intergenic variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1564858
rs1564858
1 8 118932927 splice region variant G/A snv 0.11 9.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs3134069
rs3134069
11 0.776 0.320 8 118952749 upstream gene variant A/C snv 9.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 1.000 1 2009 2009
dbSNP: rs2393778
rs2393778
2 1.000 0.080 12 120702516 upstream gene variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2014355
rs2014355
4 0.925 0.120 12 120737721 non coding transcript exon variant T/C snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs1799958
rs1799958
4 0.882 0.160 12 120738280 missense variant G/A snv 0.26 0.21 0.700 1.000 1 2018 2018
dbSNP: rs34708625
rs34708625
2 1.000 0.080 12 120742216 intron variant T/C snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs12313273
rs12313273
4 0.882 0.160 12 121625105 upstream gene variant T/C snv 0.23 0.010 1.000 1 2014 2014
dbSNP: rs883484
rs883484
1 9 122362748 intergenic variant C/T snv 0.20 0.010 1.000 1 2009 2009
dbSNP: rs1300938986
rs1300938986
1 9 122392516 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs10865710
rs10865710
13 0.763 0.360 3 12311699 intron variant C/G snv 0.25 0.010 1.000 1 2009 2009
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 2016 2016
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2016 2016
dbSNP: rs375411329
rs375411329
1 3 12379746 missense variant A/G snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121917832
rs121917832
3 0.925 0.200 12 12718066 stop gained G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs686548
rs686548
2 1.000 0.080 20 12992873 intron variant A/T snv 0.70 0.700 1.000 1 2018 2018
dbSNP: rs1009840
rs1009840
1 6 134225547 intron variant G/A snv 0.53 0.700 1.000 1 2011 2011
dbSNP: rs12575381
rs12575381
1 11 135033566 regulatory region variant G/A snv 0.16 0.700 1.000 1 2011 2011