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: rs9653711
rs9653711
4 0.851 0.120 21 33029641 intron variant G/A;C snv 0.030 1.000 3 2007 2019
dbSNP: rs9357271
rs9357271
8 0.776 0.160 6 38398097 intron variant T/C snv 0.38 0.010 1.000 1 2009 2009
dbSNP: rs8190748
rs8190748
1 1.000 0.040 10 26280826 intron variant A/G snv 0.44 0.010 1.000 1 2019 2019
dbSNP: rs7858819
rs7858819
2 1.000 0.040 9 4559892 non coding transcript exon variant C/T snv 0.25 0.010 1.000 1 2009 2009
dbSNP: rs7628229
rs7628229
1 1.000 0.040 3 184036872 missense variant C/G;T snv 6.4E-06; 2.7E-03 9.5E-03 0.010 1.000 1 2014 2014
dbSNP: rs7627615
rs7627615
2 0.925 0.040 3 184100628 missense variant G/A;C snv 0.64; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs762178
rs762178
2 0.925 0.040 21 33027093 synonymous variant A/G snv 0.51 0.53 0.030 1.000 3 2007 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.714 14 2006 2019
dbSNP: rs7541937
rs7541937
1 1.000 0.040 1 34876381 intron variant T/G snv 0.47 0.010 1.000 1 2011 2011
dbSNP: rs75063949
rs75063949
2 0.925 0.040 6 25590813 intron variant C/G snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2006 2018
dbSNP: rs7124442
rs7124442
9 0.827 0.160 11 27655494 3 prime UTR variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs6766410
rs6766410
2 1.000 0.040 3 184056974 missense variant C/A;T snv 0.45; 4.0E-06 0.020 1.000 2 2014 2016
dbSNP: rs6662980
rs6662980
1 1.000 0.040 1 34894477 intron variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs6517137
rs6517137
3 0.882 0.120 21 33028471 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2007 2007
dbSNP: rs6443930
rs6443930
1 1.000 0.040 3 184036506 splice donor variant G/A;C;T snv 0.46; 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.050 0.800 5 2003 2018
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.060 0.833 6 2007 2018
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.010 1.000 1 2002 2002
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.733 15 2006 2020
dbSNP: rs6131295
rs6131295
1 1.000 0.040 20 12015619 regulatory region variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs6131293
rs6131293
1 1.000 0.040 20 12014779 intergenic variant A/G snv 0.79 0.700 1.000 1 2013 2013
dbSNP: rs6109227
rs6109227
1 1.000 0.040 20 12018497 intergenic variant A/T snv 0.79 0.700 1.000 1 2013 2013
dbSNP: rs56151798
rs56151798
1 1.000 0.040 11 18022863 synonymous variant A/G snv 6.0E-03 6.4E-03 0.010 1.000 1 1999 1999
dbSNP: rs4988462
rs4988462
2 0.925 0.120 3 87264203 intron variant C/T snv 0.31 0.700 1.000 1 2015 2015