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: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2017 2017
dbSNP: rs11575937
rs11575937
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1256046734
rs1256046734
12 0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2008 2008
dbSNP: rs198388
rs198388
4 0.851 0.160 1 11857283 downstream gene variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs198389
rs198389
10 0.776 0.240 1 11859214 upstream gene variant A/G snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs632793
rs632793
3 0.882 0.120 1 11850620 upstream gene variant A/G snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs8450
rs8450
2 1.000 0.040 1 153947810 3 prime UTR variant G/A snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs1042034
rs1042034
15 0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 0.010 1.000 1 2017 2017
dbSNP: rs2241883
rs2241883
14 0.763 0.360 2 88124547 missense variant T/C snv 0.30 0.29 0.010 1.000 1 2015 2015
dbSNP: rs676210
rs676210
12 0.925 0.120 2 21008652 missense variant G/A;T snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs679899
rs679899
7 0.925 0.080 2 21028042 missense variant G/A snv 0.49 0.39 0.010 1.000 1 2017 2017
dbSNP: rs886916693
rs886916693
1 1.000 0.040 2 8806360 missense variant T/C snv 4.1E-06 0.010 1.000 1 2010 2010
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 2011 2011
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs2222823
rs2222823
4 0.925 0.080 3 123885940 upstream gene variant T/A snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs3732379
rs3732379
38 0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22 0.010 < 0.001 1 2009 2009
dbSNP: rs4973768
rs4973768
7 0.807 0.120 3 27374522 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2017 2017
dbSNP: rs7744
rs7744
5 0.827 0.160 3 38142530 3 prime UTR variant A/G snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 < 0.001 1 2001 2001
dbSNP: rs3816873
rs3816873
9 0.790 0.200 4 99583507 missense variant T/C snv 0.25 0.26 0.010 1.000 1 2015 2015
dbSNP: rs920435389
rs920435389
3 1.000 0.040 5 177091064 missense variant G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 1999 1999