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 0.897 29 2006 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.880 25 2006 2018
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 1.000 11 2005 2019
dbSNP: rs5569
rs5569
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.100 1.000 11 1999 2018
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.100 1.000 11 2000 2019
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.070 1.000 7 2010 2014
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.060 0.833 6 2007 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.050 0.600 5 2002 2014
dbSNP: rs2522833
rs2522833
7 0.827 0.080 7 82824392 missense variant A/C snv 0.45 0.34 0.050 1.000 5 2011 2017
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.050 1.000 5 2009 2017
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.050 1.000 5 2010 2019
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.040 1.000 4 2008 2013
dbSNP: rs2230912
rs2230912
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.040 0.500 4 2009 2011
dbSNP: rs120074175
rs120074175
7 0.827 0.080 12 72031544 missense variant G/A snv 1.2E-05 7.0E-06 0.030 1.000 3 2006 2015
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.030 1.000 3 2014 2019
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.030 0.333 3 2007 2016
dbSNP: rs11030101
rs11030101
10 0.763 0.160 11 27659197 5 prime UTR variant A/T snv 0.36 0.020 1.000 2 2012 2013
dbSNP: rs1800532
rs1800532
15 0.763 0.160 11 18026269 intron variant G/T snv 0.33 0.020 1.000 2 2012 2019
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 < 0.001 2 2007 2008
dbSNP: rs2242446
rs2242446
9 0.776 0.080 16 55656513 5 prime UTR variant C/A;T snv 0.020 1.000 2 2008 2017
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.020 1.000 2 2012 2019
dbSNP: rs334558
rs334558
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.020 1.000 2 2017 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2017
dbSNP: rs40184
rs40184
5 0.851 0.120 5 1394962 intron variant C/T snv 0.45 0.020 1.000 2 2008 2010
dbSNP: rs10233018
rs10233018
2 0.925 0.040 7 117883655 non coding transcript exon variant A/G snv 0.53 0.700 1.000 1 2016 2016