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: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.900 1.000 15 2007 2020
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.850 1.000 9 2009 2018
dbSNP: rs3024505
rs3024505
10 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 0.840 0.889 9 2008 2017
dbSNP: rs6426833
rs6426833
6 0.827 0.120 1 19845367 TF binding site variant G/A snv 0.52 0.810 1.000 9 2009 2017
dbSNP: rs1004819
rs1004819
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.050 0.800 5 2007 2017
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 1999 2016
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.730 1.000 4 2011 2016
dbSNP: rs2816958
rs2816958
6 0.827 0.120 1 200132792 intron variant A/G snv 0.84 0.800 1.000 4 2012 2017
dbSNP: rs3806308
rs3806308
5 0.827 0.120 1 19816373 intron variant C/T snv 0.36 0.800 1.000 4 2009 2016
dbSNP: rs7517847
rs7517847
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.730 1.000 4 2008 2016
dbSNP: rs7554511
rs7554511
3 0.925 0.040 1 200908434 intron variant C/A snv 0.22 0.800 1.000 4 2009 2017
dbSNP: rs10754558
rs10754558
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.030 1.000 3 2014 2018
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.820 1.000 3 2009 2020
dbSNP: rs12568930
rs12568930
4 1.000 0.040 1 22375738 intergenic variant T/C snv 0.21 0.800 1.000 3 2009 2017
dbSNP: rs2201841
rs2201841
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.820 1.000 3 2010 2017
dbSNP: rs3024493
rs3024493
9 0.776 0.280 1 206770623 intron variant C/A;T snv 0.11 0.800 1.000 3 2009 2016
dbSNP: rs3766606
rs3766606
6 0.827 0.120 1 7962137 intron variant G/T snv 0.22 0.700 1.000 3 2015 2017
dbSNP: rs4845604
rs4845604
10 0.776 0.200 1 151829204 intron variant G/A;C;T snv 0.700 1.000 3 2015 2017
dbSNP: rs10797432
rs10797432
2 1.000 0.040 1 2569899 downstream gene variant C/T snv 0.51 0.800 1.000 2 2012 2017
dbSNP: rs10800309
rs10800309
3 0.925 0.120 1 161502368 upstream gene variant A/G;T snv 0.800 1.000 2 2010 2015
dbSNP: rs11209032
rs11209032
10 0.752 0.400 1 67274409 upstream gene variant G/A snv 0.30 0.020 1.000 2 2015 2017
dbSNP: rs11805303
rs11805303
6 0.827 0.240 1 67209833 intron variant C/T snv 0.30 0.020 1.000 2 2012 2012
dbSNP: rs1343151
rs1343151
10 0.752 0.400 1 67253446 intron variant G/A snv 0.41 0.020 0.500 2 2015 2017
dbSNP: rs1495965
rs1495965
8 0.790 0.280 1 67287825 intergenic variant C/T snv 0.55 0.020 < 0.001 2 2015 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2008 2012