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: rs9823506
rs9823506
1 1.000 0.080 3 100757869 intron variant C/T snv 4.3E-02 0.800 1.000 1 2013 2013
dbSNP: rs74180212
rs74180212
2 0.925 0.080 2 102181785 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs78545931
rs78545931
2 0.925 0.080 2 102265892 intergenic variant A/G snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs72823641
rs72823641
4 0.882 0.080 2 102319699 intron variant T/A;C snv 0.700 1.000 2 2019 2019
dbSNP: rs10208293
rs10208293
4 0.882 0.160 2 102349850 intron variant G/A snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs1861245
rs1861245
2 0.925 0.080 2 102350446 intron variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs4988958
rs4988958
2 1.000 0.080 2 102351825 synonymous variant T/C snv 0.34 0.46 0.700 1.000 1 2018 2018
dbSNP: rs5491
rs5491
6 0.827 0.160 19 10274864 missense variant A/G;T snv 4.0E-06; 2.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs71421264
rs71421264
1 1.000 0.080 14 102777733 intron variant C/A;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2014 2014
dbSNP: rs652438
rs652438
14 0.716 0.400 11 102865911 missense variant T/C;G snv 7.1E-02; 2.5E-04 0.010 1.000 1 2013 2013
dbSNP: rs201541519
rs201541519
2 1.000 0.080 14 105694756 intergenic variant AAGA/- delins 1.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs6967330
rs6967330
8 0.827 0.120 7 106018005 missense variant G/A snv 0.19 0.21 0.740 1.000 5 2014 2019
dbSNP: rs9372120
rs9372120
5 0.851 0.280 6 106219660 intron variant T/G snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs2052690
rs2052690
2 0.925 0.080 11 10642486 intron variant G/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs16925517
rs16925517
1 1.000 0.080 9 106484720 intron variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs7974135
rs7974135
1 1.000 0.080 12 107977536 intergenic variant G/A snv 1.1E-02 0.700 1.000 1 2013 2013
dbSNP: rs121912633
rs121912633
10 0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs3742030
rs3742030
4 0.925 0.080 12 109814742 missense variant G/A;C snv 3.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs7734635
rs7734635
3 0.925 0.080 5 110823145 intergenic variant A/G snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs34104444
rs34104444
1 1.000 0.080 10 110885330 synonymous variant G/A snv 3.7E-02 6.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs1837253
rs1837253
10 0.790 0.240 5 111066174 upstream gene variant T/C snv 0.72 0.700 1.000 2 2019 2019
dbSNP: rs6594499
rs6594499
4 0.882 0.120 5 111134439 downstream gene variant C/A snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs35032408
rs35032408
2 0.925 0.080 16 11121567 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12935657
rs12935657
3 0.925 0.080 16 11125184 intron variant G/A snv 0.18 0.700 1.000 1 2019 2019