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 0.862 58 2003 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.826 46 2003 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 1.000 23 2005 2019
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.100 0.933 15 2000 2019
dbSNP: rs5569
rs5569
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.100 0.929 14 1999 2019
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.900 0.917 12 2010 2016
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.800 10 2005 2017
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.100 0.800 10 2010 2019
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.090 1.000 9 2010 2019
dbSNP: rs2522833
rs2522833
7 0.827 0.080 7 82824392 missense variant A/C snv 0.45 0.34 0.780 1.000 9 2009 2017
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.090 0.778 9 2004 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.070 0.714 7 2002 2019
dbSNP: rs2230912
rs2230912
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.070 0.714 7 2006 2018
dbSNP: rs2242446
rs2242446
9 0.776 0.080 16 55656513 5 prime UTR variant C/A;T snv 0.060 0.833 6 2008 2018
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.060 1.000 6 2010 2019
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.060 1.000 6 2009 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2012 2017
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.050 0.600 5 2007 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: rs11030101
rs11030101
10 0.763 0.160 11 27659197 5 prime UTR variant A/T snv 0.36 0.040 1.000 4 2009 2018
dbSNP: rs12552
rs12552
3 1.000 0.040 13 53051646 3 prime UTR variant A/G snv 0.58 0.700 1.000 4 2016 2019
dbSNP: rs1800532
rs1800532
15 0.763 0.160 11 18026269 intron variant G/T snv 0.33 0.040 1.000 4 2011 2019
dbSNP: rs2535629
rs2535629
9 0.827 0.040 3 52799203 intron variant G/A;C snv 0.820 1.000 4 2013 2019
dbSNP: rs10149470
rs10149470
3 1.000 0.040 14 103551616 upstream gene variant A/G snv 0.54 0.700 1.000 3 2018 2019
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.030 1.000 3 2012 2016