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: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.040 1.000 4 2012 2014
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: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.030 1.000 3 2013 2019
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: rs878567
rs878567
4 0.882 0.040 5 63960164 intron variant A/C;G snv 0.020 1.000 2 2010 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: rs1055447
rs1055447
2 1.000 0.040 11 47164873 3 prime UTR variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10748842
rs10748842
8 0.807 0.120 10 81889983 intron variant T/C snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs10868235
rs10868235
6 0.925 0.040 9 84878840 intron variant C/T snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs10891564
rs10891564
2 1.000 0.040 11 113503291 intergenic variant G/A snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs10950393
rs10950393
2 1.000 0.040 7 12223920 intron variant T/C snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs10965780
rs10965780
3 1.000 0.040 9 23341717 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10994336
rs10994336
12 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs11039149
rs11039149
6 0.827 0.280 11 47255124 intron variant A/G snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs11039409
rs11039409
2 1.000 0.040 11 47814169 intron variant A/C snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs11123857
rs11123857
2 2 100987350 non coding transcript exon variant A/G snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs111365677
rs111365677
3 0.925 0.040 1 99463578 upstream gene variant T/C snv 2.3E-03 0.700 1.000 1 2016 2016