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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.040 1.000 4 2012 2015
dbSNP: rs3800373
rs3800373
22 0.752 0.200 6 35574699 3 prime UTR variant C/A snv 0.68 0.030 1.000 3 2011 2019
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.020 1.000 2 2011 2019
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.020 1.000 2 2008 2012
dbSNP: rs10416814
rs10416814
1 19 14476390 upstream gene variant T/A snv 0.33 0.010 1.000 1 2011 2011
dbSNP: rs10767664
rs10767664
16 0.752 0.400 11 27704439 intron variant T/A snv 0.83 0.010 1.000 1 2015 2015
dbSNP: rs10868235
rs10868235
6 0.925 0.040 9 84878840 intron variant C/T snv 0.40 0.010 1.000 1 2012 2012
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: rs121908538
rs121908538
2 1.000 13 47954510 missense variant G/A snv 3.2E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs12273363
rs12273363
11 0.807 0.120 11 27723312 intron variant T/C snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs1491850
rs1491850
6 0.925 0.080 11 27728178 intron variant T/C snv 0.37 0.010 1.000 1 2015 2015
dbSNP: rs1491851
rs1491851
4 0.925 0.080 11 27731216 intron variant T/C;G snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs1532976
rs1532976
1 17 1405534 intergenic variant A/G snv 0.75 0.010 1.000 1 2005 2005
dbSNP: rs1800042
rs1800042
2 1.000 0.040 5 63960902 missense variant C/A;T snv 8.0E-06; 1.4E-03 0.010 1.000 1 2002 2002
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2012 2012
dbSNP: rs181058279
rs181058279
1 2 230169144 missense variant C/G;T snv 3.8E-04; 2.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs2682826
rs2682826
11 0.807 0.280 12 117215033 3 prime UTR variant G/A snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs3752826
rs3752826
1 17 1361770 non coding transcript exon variant A/C snv 0.75 0.010 1.000 1 2005 2005
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs4307059
rs4307059
5 0.882 0.080 5 25967594 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.010 1.000 1 2011 2011
dbSNP: rs6943555
rs6943555
5 0.882 0.080 7 70341037 intron variant T/A snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs7124442
rs7124442
9 0.827 0.160 11 27655494 3 prime UTR variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs734312
rs734312
10 0.790 0.240 4 6301627 missense variant G/A snv 0.55 0.42 0.010 1.000 1 2009 2009
dbSNP: rs745918508
rs745918508
1 15 63302416 frameshift variant A/- delins 4.9E-05 0.010 1.000 1 2018 2018