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: rs147856773
rs147856773
1 1.000 0.040 6 108666024 intron variant -/GGT delins 0.14 0.700 1.000 1 2017 2017
dbSNP: rs10045431
rs10045431
4 0.851 0.240 5 159387525 intron variant A/C snv 0.78 0.810 1.000 3 2008 2014
dbSNP: rs10775412
rs10775412
5 0.827 0.120 17 27542007 intron variant A/C snv 0.30 0.700 1.000 2 2016 2017
dbSNP: rs4807569
rs4807569
2 0.925 0.120 19 1123379 intron variant A/C snv 0.25 0.710 1.000 2 2008 2010
dbSNP: rs11167764
rs11167764
2 0.925 0.120 5 142099500 regulatory region variant A/C snv 0.80 0.800 1.000 1 2010 2010
dbSNP: rs12948909
rs12948909
3 0.925 0.120 17 42418584 intron variant A/C snv 0.24 0.700 1.000 1 2008 2008
dbSNP: rs13371189
rs13371189
1 1.000 0.040 18 11304692 intergenic variant A/C snv 0.010 1.000 1 2013 2013
dbSNP: rs140068907
rs140068907
1 1.000 0.040 6 32691666 regulatory region variant A/C snv 3.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs1517352
rs1517352
5 0.851 0.160 2 191066738 intron variant A/C snv 0.45 0.700 1.000 1 2015 2015
dbSNP: rs1551399
rs1551399
5 0.827 0.120 8 125527723 intron variant A/C snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs16853571
rs16853571
1 1.000 0.040 4 41751113 intron variant A/C snv 9.9E-02 0.700 1.000 1 2007 2007
dbSNP: rs16931910
rs16931910
1 1.000 0.040 9 114856029 intron variant A/C snv 7.2E-02 0.700 1.000 1 2005 2005
dbSNP: rs17312836
rs17312836
1 1.000 0.040 16 50707551 intron variant A/C snv 0.33 0.700 1.000 1 2007 2007
dbSNP: rs17780256
rs17780256
6 0.827 0.120 17 72646784 3 prime UTR variant A/C snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs2382817
rs2382817
3 0.925 0.040 2 218286495 5 prime UTR variant A/C snv 0.61 0.700 1.000 1 2015 2015
dbSNP: rs247660
rs247660
1 1.000 0.040 5 85462322 upstream gene variant A/C snv 0.21 0.700 1.000 1 2008 2008
dbSNP: rs2933353
rs2933353
1 1.000 0.040 12 40464141 non coding transcript exon variant A/C snv 0.76 0.70 0.010 1.000 1 2013 2013
dbSNP: rs3135499
rs3135499
3 0.882 0.160 16 50732216 splice donor variant A/C snv 0.45 0.700 1.000 1 2007 2007
dbSNP: rs360718
rs360718
5 0.827 0.120 11 112164016 5 prime UTR variant A/C snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs3763313
rs3763313
7 0.807 0.320 6 32408694 upstream gene variant A/C snv 0.21 0.700 1.000 1 2008 2008
dbSNP: rs3814057
rs3814057
4 0.925 0.040 3 119818407 3 prime UTR variant A/C snv 0.28 0.010 1.000 1 2011 2011
dbSNP: rs4855873
rs4855873
AMT
1 1.000 0.040 3 49421681 non coding transcript exon variant A/C snv 0.43 0.700 1.000 1 2007 2007
dbSNP: rs61802846
rs61802846
5 0.827 0.120 1 161504083 upstream gene variant A/C snv 8.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs7165170
rs7165170
2 1.000 0.040 15 90638257 non coding transcript exon variant A/C snv 0.26 0.700 1.000 1 2015 2015
dbSNP: rs7186163
rs7186163
1 1.000 0.040 16 50652646 downstream gene variant A/C snv 0.63 0.700 1.000 1 2007 2007