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 2017 2019
dbSNP: rs10465885
rs10465885
4 0.882 0.080 1 147760632 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2019 2019
dbSNP: rs1557612048
rs1557612048
11 0.807 0.200 1 26767868 missense variant T/C snv 0.700 0
dbSNP: rs483352822
rs483352822
16 0.776 0.360 1 155904470 stop lost C/A;G;T snv 0.700 0
dbSNP: rs137852813
rs137852813
11 0.807 0.200 2 39051202 missense variant A/C;G snv 0.700 1.000 5 2007 2011
dbSNP: rs1057516047
rs1057516047
4 0.882 0.120 2 47073816 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs2164331
rs2164331
1 2 135910326 intron variant C/T snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs309143
rs309143
1 2 135956608 intron variant A/G snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs6738266
rs6738266
1 2 135985602 5 prime UTR variant C/T snv 2.8E-02 2.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs80338796
rs80338796
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
dbSNP: rs6785358
rs6785358
4 0.882 0.200 3 30602723 upstream gene variant G/A snv 0.84 0.010 1.000 1 2015 2015
dbSNP: rs1383180
rs1383180
1 4 5783715 missense variant G/A;T snv 0.35; 2.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2013 2013
dbSNP: rs751484586
rs751484586
3 0.925 0.080 4 110618487 missense variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs755273705
rs755273705
EVC
1 4 5729349 missense variant C/G;T snv 2.0E-05 0.010 1.000 1 2018 2018
dbSNP: rs61729366
rs61729366
6 0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03 0.700 0
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 1.000 2 2017 2019
dbSNP: rs113331868
rs113331868
6 5 150228191 splice donor variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1532268
rs1532268
12 0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 0.010 1.000 1 2019 2019
dbSNP: rs2277923
rs2277923
13 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2018 2018
dbSNP: rs3762977
rs3762977
1 5 51383180 non coding transcript exon variant A/G snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs387906775
rs387906775
3 0.925 0.080 5 173234909 missense variant G/C snv 0.010 1.000 1 2011 2011
dbSNP: rs387906776
rs387906776
3 1.000 0.080 5 173232775 missense variant G/A;C;T snv 4.2E-06; 8.4E-06 0.010 1.000 1 2010 2010
dbSNP: rs703752
rs703752
1 5 173232508 3 prime UTR variant C/A;G snv 0.010 1.000 1 2016 2016