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: rs11017328
rs11017328
2 0.925 0.080 10 130548836 regulatory region variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1959122
rs1959122
2 0.925 0.080 14 81871321 intron variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs2267386
rs2267386
2 0.925 0.080 22 38436107 intron variant G/A snv 2.7E-02 0.700 1.000 1 2014 2014
dbSNP: rs4366490
rs4366490
2 0.925 0.080 11 63145382 intron variant T/C snv 0.76 0.700 1.000 1 2014 2014
dbSNP: rs6140038
rs6140038
2 0.925 0.080 20 6601515 intergenic variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs6545278
rs6545278
2 0.925 0.080 2 52478914 upstream gene variant T/G snv 3.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs6763159
rs6763159
2 0.925 0.080 3 59663795 intron variant T/C snv 0.52 0.700 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2006 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2003 2018
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2005 2011
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs10495098
rs10495098
1 1.000 1 218342968 upstream gene variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2012 2012
dbSNP: rs11627387
rs11627387
1 1.000 14 64457259 intron variant G/A snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs12109442
rs12109442
1 1.000 5 95827931 downstream gene variant T/A snv 9.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs121908601
rs121908601
4 0.851 0.080 8 105419192 missense variant A/C;G snv 4.0E-06; 2.7E-03 0.010 1.000 1 2011 2011
dbSNP: rs1266613767
rs1266613767
1 1.000 5 88751929 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1346131223
rs1346131223
1 1.000 6 43777657 missense variant A/G snv 7.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs1359880314
rs1359880314
12 0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs1396258746
rs1396258746
2 0.925 0.120 4 2898474 missense variant G/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs1434993315
rs1434993315
1 1.000 17 43528566 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1465444723
rs1465444723
5 0.827 0.240 22 30610886 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs149181425
rs149181425
1 1.000 4 110618313 missense variant C/A;G;T snv 2.0E-05; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs17085159
rs17085159
1 1.000 5 95831293 downstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1800469
rs1800469
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2014 2014