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 0.962 26 2003 2020
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.957 23 2003 2019
dbSNP: rs2230912
rs2230912
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.090 0.889 9 2009 2019
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.040 1.000 4 2012 2014
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.040 0.500 4 2008 2015
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.040 1.000 4 1999 2009
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.040 1.000 4 2001 2018
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.030 0.667 3 2010 2018
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.030 1.000 3 2001 2002
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.030 1.000 3 2013 2019
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.030 1.000 3 2014 2015
dbSNP: rs734312
rs734312
10 0.790 0.240 4 6301627 missense variant G/A snv 0.55 0.42 0.030 0.667 3 2005 2015
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.020 1.000 2 2011 2017
dbSNP: rs1800532
rs1800532
15 0.763 0.160 11 18026269 intron variant G/T snv 0.33 0.020 1.000 2 2012 2012
dbSNP: rs1801260
rs1801260
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.020 < 0.001 2 2010 2011
dbSNP: rs208294
rs208294
9 0.790 0.320 12 121162450 missense variant T/A;C;G snv 0.51 0.020 1.000 2 2011 2012
dbSNP: rs878567
rs878567
4 0.882 0.040 5 63960164 intron variant A/C;G snv 0.020 1.000 2 2010 2013
dbSNP: rs953038635
rs953038635
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.020 0.500 2 2006 2013
dbSNP: rs10020288
rs10020288
2 1.000 0.040 4 28686220 intergenic variant G/A snv 0.38 0.700 1.000 1 2018 2018
dbSNP: rs10103191
rs10103191
1 8 91890204 intron variant G/A snv 0.58 0.010 1.000 1 2017 2017
dbSNP: rs10144845
rs10144845
2 1.000 0.040 14 74771067 intron variant C/T snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs10156548
rs10156548
2 1.000 0.040 9 23318435 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10405382
rs10405382
2 1.000 0.040 19 32405810 5 prime UTR variant C/G snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs10429537
rs10429537
2 1.000 0.040 9 23346844 intron variant C/G snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2006 2006