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 0.100 1.000 10 2005 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 1.000 10 2005 2018
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2005 2005
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2006 2006
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 1.000 3 2008 2018
dbSNP: rs893924483
rs893924483
23 0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.030 1.000 3 2010 2019
dbSNP: rs1885884
rs1885884
2 13 46856141 non coding transcript exon variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs7997012
rs7997012
11 0.807 0.080 13 46837850 intron variant A/G snv 0.69 0.010 1.000 1 2010 2010
dbSNP: rs9316235
rs9316235
2 13 46871568 intron variant G/A snv 0.19 0.010 1.000 1 2010 2010
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.020 1.000 2 2011 2018
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2012 2012
dbSNP: rs1800532
rs1800532
15 0.763 0.160 11 18026269 intron variant G/T snv 0.33 0.010 1.000 1 2012 2012
dbSNP: rs279826
rs279826
4 1.000 0.080 4 46332192 intron variant A/G snv 0.46 0.010 1.000 1 2012 2012
dbSNP: rs279858
rs279858
8 0.851 0.080 4 46312576 synonymous variant T/C snv 0.40 0.38 0.010 1.000 1 2012 2012
dbSNP: rs4537731
rs4537731
3 1.000 0.040 11 18047335 upstream gene variant T/C snv 0.48 0.010 1.000 1 2012 2012
dbSNP: rs4675690
rs4675690
3 2 207643083 intergenic variant C/T snv 0.48 0.010 1.000 1 2012 2012
dbSNP: rs698
rs698
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.010 < 0.001 1 2014 2014
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 < 0.001 1 2014 2014
dbSNP: rs7305115
rs7305115
8 0.807 0.200 12 71979082 synonymous variant A/C;G;T snv 4.0E-06; 0.56 0.010 1.000 1 2014 2014
dbSNP: rs13438494
rs13438494
6 1.000 0.040 7 82759398 intron variant T/G snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.010 1.000 1 2015 2015