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: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs1740073
rs1740073
2 1.000 0.040 6 43979661 regulatory region variant T/C snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs2375981
rs2375981
2 1.000 0.040 9 2692583 regulatory region variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2954029
rs2954029
14 0.807 0.160 8 125478730 intron variant A/T snv 0.42 0.010 1.000 1 2011 2011
dbSNP: rs6834314
rs6834314
10 0.807 0.160 4 87292656 intergenic variant A/G snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs6921438
rs6921438
10 0.776 0.360 6 43957870 intergenic variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs872129
rs872129
2 0.925 0.080 1 203200263 intergenic variant A/G snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs1239681664
rs1239681664
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs138880920
rs138880920
1 1.000 0.040 9 104826957 missense variant C/G snv 3.3E-03 1.8E-03 0.010 1.000 1 2005 2005
dbSNP: rs2066714
rs2066714
13 0.742 0.240 9 104824472 missense variant T/C snv 0.21 0.25 0.010 1.000 1 2008 2008
dbSNP: rs2066718
rs2066718
7 0.882 0.120 9 104826974 missense variant C/G;T snv 4.3E-04; 5.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs2230808
rs2230808
6 0.827 0.240 9 104800523 missense variant T/C snv 0.71 0.60 0.010 1.000 1 2008 2008
dbSNP: rs33918808
rs33918808
1 1.000 0.040 9 104817351 missense variant C/G;T snv 3.5E-02; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs4147929
rs4147929
3 0.882 0.120 19 1063444 intron variant A/C;G snv 0.010 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 2014 2014
dbSNP: rs72653706
rs72653706
32 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.010 < 0.001 1 2011 2011
dbSNP: rs750249283
rs750249283
2 0.925 0.080 21 42296256 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1800888
rs1800888
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.010 1.000 1 2012 2012
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.020 < 0.001 2 2001 2003
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 < 0.001 1 2001 2001
dbSNP: rs567798234
rs567798234
5 0.851 0.120 1 109625326 missense variant C/T snv 4.1E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12713559
rs12713559
10 0.776 0.120 2 21006196 missense variant G/A snv 3.4E-04 5.0E-04 0.010 1.000 1 1998 1998
dbSNP: rs5742904
rs5742904
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.010 1.000 1 1998 1998
dbSNP: rs12817819
rs12817819
3 0.882 0.040 12 89645549 intron variant C/T snv 9.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs2293489
rs2293489
2 0.925 0.120 7 73692949 non coding transcript exon variant C/T snv 0.26 0.010 1.000 1 2019 2019