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: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2017
dbSNP: rs10494251
rs10494251
4 0.851 0.040 1 147552120 intron variant C/T snv 5.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs111365677
rs111365677
3 0.925 0.040 1 99463578 upstream gene variant T/C snv 2.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1541187
rs1541187
3 0.882 0.040 1 147579693 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1805054
rs1805054
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.010 1.000 1 2005 2005
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 2012 2012
dbSNP: rs2984618
rs2984618
3 0.925 0.040 1 47224766 intron variant G/T snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2010 2010
dbSNP: rs4839421
rs4839421
3 0.925 0.040 1 110479338 intron variant C/A snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs55679149
rs55679149
3 0.925 0.040 1 89068655 upstream gene variant C/T snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs6586354
rs6586354
4 0.851 0.040 1 234897489 intron variant G/A snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs6691840
rs6691840
5 0.827 0.120 1 36859876 missense variant A/C;G snv 0.27; 9.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs672607
rs672607
4 0.851 0.040 1 147581540 intron variant G/A snv 0.12 0.010 1.000 1 2011 2011
dbSNP: rs688325
rs688325
4 0.851 0.040 1 147605490 intron variant G/A snv 0.19 0.010 1.000 1 2011 2011
dbSNP: rs7555693
rs7555693
3 0.925 0.040 1 106295917 intergenic variant G/A snv 0.45 0.700 1.000 1 2018 2018
dbSNP: rs760161369
rs760161369
3 0.882 0.040 1 11800214 missense variant G/A;C snv 2.8E-05; 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs782212
rs782212
2 0.925 0.040 1 72479983 intron variant C/T snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs821616
rs821616
13 0.752 0.200 1 232008852 missense variant A/T snv 0.26 0.29 0.010 1.000 1 2006 2006
dbSNP: rs946903
rs946903
3 0.882 0.040 1 147625465 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2011 2011
dbSNP: rs11904814
rs11904814
5 0.851 0.080 2 207562074 intron variant T/G snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs12476147
rs12476147
4 0.851 0.040 2 184936178 missense variant A/T snv 0.66 0.59 0.010 1.000 1 2018 2018
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs2253206
rs2253206
6 0.851 0.080 2 207527254 intron variant A/G snv 0.47 0.010 1.000 1 2017 2017