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: rs505922
rs505922
24 0.724 0.357 None NA snp 0.37 0.020 0.500 2 2013 2018
dbSNP: rs11240065
rs11240065
1 1 147468451 intron variant snp 0.41 0.700 1 2012 2012
dbSNP: rs199474657
rs199474657
15 0.744 0.321 MT 3243 non coding transcript exon variant snp 0.700 1 2015 2015
dbSNP: rs529565
rs529565
13 0.878 0.107 None NA snp 0.38 0.700 1 2017 2017
dbSNP: rs77149783
rs77149783
1 17 48923631 intron variant snp 0.41; 9.8E-05 0.700 1 2012 2012
dbSNP: rs145067756
rs145067756
1 17 48923631 intron variant A/AAGAAAGAATGTCAC in-del 0.700 1 2012 2012
dbSNP: rs17329620
rs17329620
1 12 87757000 intergenic variant A/C snp 0.11 0.700 1 2013 2013
dbSNP: rs2980853
rs2980853
15 0.878 0.071 8 125466108 regulatory region variant A/C snp 0.45 0.700 1 2016 2016
dbSNP: rs463312
rs463312
3 1.000 0.036 20 59022915 missense variant A/C snp 7.7E-02 5.7E-02 0.010 1.000 1 2007 2007
dbSNP: rs9351814
rs9351814
2 1.000 0.036 6 71484004 intergenic variant A/C snp 0.35 0.700 1 2014 2014
dbSNP: rs1044498
rs1044498
8 0.801 0.250 6 131851228 missense variant A/C,G snp 0.19 0.32 0.010 1.000 1 2013 2013
dbSNP: rs118192162
rs118192162
9 0.784 0.107 19 38455359 missense variant A/C,G snp 0.010 1.000 1 2008 2008
dbSNP: rs14259
rs14259
15 0.734 0.321 12 121915890 missense variant A/C,G snp 4.0E-06; 0.32 0.26 0.010 1.000 1 2011 2011
dbSNP: rs397514465
rs397514465
3 0.923 0.250 5 59193507 missense variant A/C,G snp 0.010 1.000 1 2013 2013
dbSNP: rs854560
rs854560
51 0.599 0.500 7 95316772 missense variant A/C,G,N,T snp 0.29 0.29 0.010 1.000 1 2010 2010
dbSNP: rs61749020
rs61749020
1 19 15189325 synonymous variant A/C,G,T snp 2.6E-02 2.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs7041
rs7041
GC
16 0.707 0.357 4 71752617 missense variant A/C,T snp 0.52; 4.0E-06 0.46 0.010 < 0.001 1 2016 2016
dbSNP: rs10757278
rs10757278
15 0.724 0.143 9 22124478 intergenic variant A/G snp 0.40 0.020 1.000 2 2009 2012
dbSNP: rs1217691063
rs1217691063
29 0.652 0.571 1 11796309 missense variant A/G snp 4.0E-06 0.020 1.000 2 2017 2017
dbSNP: rs5065
rs5065
9 0.784 0.143 1 11846011 stop lost A/G snp 0.14 0.20 0.020 1.000 2 2010 2012
dbSNP: rs10455872
rs10455872
LPA
23 0.707 0.179 6 160589086 intron variant A/G snp 4.4E-02 0.700 1 2014 2014
dbSNP: rs10507875
rs10507875
1 13 77943119 intron variant A/G snp 0.17 0.010 1.000 1 2009 2009
dbSNP: rs10757274
rs10757274
8 0.821 0.071 9 22096056 intron variant A/G snp 0.41 0.010 1.000 1 2010 2010
dbSNP: rs11065987
rs11065987
13 0.846 0.143 12 111634620 intergenic variant A/G snp 0.29 0.700 1 2014 2014
dbSNP: rs11196288
rs11196288
2 1.000 0.071 10 113297684 intergenic variant A/G snp 5.9E-02 0.010 1.000 1 2016 2016