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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2011 2012
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2014 2018
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2014 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 2017 2018
dbSNP: rs2391769
rs2391769
3 0.925 0.040 1 96513405 regulatory region variant A/G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2011 2012
dbSNP: rs10489744
rs10489744
2 0.925 0.040 1 165411386 intron variant G/A snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs10910623
rs10910623
1 1.000 0.040 1 232802953 upstream gene variant G/A snv 7.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs11122330
rs11122330
1 1.000 0.040 1 231762845 intron variant A/G snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs11162556
rs11162556
2 0.925 0.040 1 78795698 intergenic variant A/G snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs11210887
rs11210887
2 0.925 0.040 1 43610348 intron variant G/A snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs112984125
rs112984125
1 1.000 0.040 1 43707752 intron variant G/A snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs113551349
rs113551349
2 0.925 0.040 1 44009451 intron variant C/T snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs12036759
rs12036759
1 1.000 0.040 1 232789695 regulatory region variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12042052
rs12042052
1 1.000 0.040 1 232799973 upstream gene variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12095069
rs12095069
1 1.000 0.040 1 75997387 intron variant T/C snv 0.16 0.700 1.000 1 2015 2015
dbSNP: rs1538979
rs1538979
3 0.882 0.160 1 231761122 intron variant C/T snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs1625579
rs1625579
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.800 1.000 1 2013 2013
dbSNP: rs2252865
rs2252865
6 0.851 0.040 1 8362616 intron variant T/C snv 0.72 0.800 1.000 1 2013 2013
dbSNP: rs2281597
rs2281597
1 1.000 0.040 1 33894257 intron variant G/C snv 0.82 0.800 1.000 1 2008 2008
dbSNP: rs2295633
rs2295633
7 0.827 0.120 1 46408711 intron variant A/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs2782639
rs2782639
2 0.925 0.040 1 43540668 intron variant A/G snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs3001723
rs3001723
2 0.925 0.040 1 43572014 intron variant G/A snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs4650608
rs4650608
7 0.851 0.040 1 78772330 intergenic variant T/C snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs4846049
rs4846049
11 0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 0.010 1.000 1 2012 2012