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: rs10507391
rs10507391
10 0.776 0.320 13 30737959 intron variant A/T snv 0.52 0.010 < 0.001 1 2015 2015
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 < 0.001 1 2016 2016
dbSNP: rs2232582
rs2232582
LBP
3 0.882 0.160 20 38350862 synonymous variant T/C snv 0.16 0.22 0.010 < 0.001 1 2012 2012
dbSNP: rs2232618
rs2232618
LBP
5 0.851 0.160 20 38373117 missense variant T/C snv 9.2E-02 0.12 0.010 < 0.001 1 2012 2012
dbSNP: rs35364374
rs35364374
1 1.000 0.120 19 38492540 missense variant G/T snv 6.9E-02 5.0E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2014 2014
dbSNP: rs5888
rs5888
11 0.752 0.200 12 124800202 synonymous variant A/G;T snv 0.59; 4.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 < 0.001 1 2006 2006
dbSNP: rs755403632
rs755403632
1 1.000 0.120 10 42792991 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 < 0.001 1 2006 2006
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2000 2014
dbSNP: rs768963
rs768963
2 0.925 0.120 19 3615409 non coding transcript exon variant G/A;C snv 0.030 1.000 3 2006 2015
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.020 1.000 2 2000 2009
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.020 1.000 2 2008 2014
dbSNP: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.020 1.000 2 2014 2018
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 1.000 2 2015 2019
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.020 1.000 2 2008 2017
dbSNP: rs2241883
rs2241883
14 0.763 0.360 2 88124547 missense variant T/C snv 0.30 0.29 0.020 1.000 2 2008 2016
dbSNP: rs4523
rs4523
8 0.776 0.280 19 3595796 missense variant A/G snv 0.56 0.66 0.020 1.000 2 2013 2015
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2004 2010
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 1.000 2 2004 2010
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 1.000 2 2003 2009