Source: ALL
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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2014 2017
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.020 1.000 2 2010 2015
dbSNP: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.020 1.000 2 2000 2000
dbSNP: rs137852912
rs137852912
PCSK9
10 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.020 1.000 2 2006 2018
dbSNP: rs599839
rs599839
PSRC1
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.020 1.000 2 2011 2013
dbSNP: rs80356814
rs80356814
LMNA
15 0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 0.020 0.500 2 2002 2005
dbSNP: rs1012657750
rs1012657750
SELENBP1
2 1 151368294 missense variant G/C snv 0.010 1.000 1 2020 2020
dbSNP: rs1249051329
rs1249051329
SELENBP1
2 1 151369834 synonymous variant T/C snv 3.5E-05 0.010 1.000 1 2020 2020
dbSNP: rs17465637
rs17465637
MIA3
11 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1746661
rs1746661
FNDC5
3 0.925 0.080 1 32869438 intron variant G/A;T snv 0.010 < 0.001 1 2015 2015
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 2015 2015
dbSNP: rs2229238
rs2229238
IL6R
5 0.851 0.080 1 154465420 3 prime UTR variant T/A;C snv 0.80 0.010 1.000 1 2011 2011
dbSNP: rs28942111
rs28942111
PCSK9
7 0.807 0.120 1 55044016 missense variant T/A snv 0.010 1.000 1 2018 2018
dbSNP: rs28942112
rs28942112
PCSK9
3 0.925 0.040 1 55052400 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs3480
rs3480
FNDC5
8 0.807 0.160 1 32862564 3 prime UTR variant G/A snv 0.56 0.010 < 0.001 1 2015 2015
dbSNP: rs35829419
rs35829419
NLRP3
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 1.000 1 2011 2011
dbSNP: rs3737787
rs3737787
USF1 ; TSTD1
11 0.763 0.280 1 161039733 3 prime UTR variant G/A snv 0.21 0.010 1.000 1 2009 2009
dbSNP: rs374603772
rs374603772
PCSK9
9 0.776 0.160 1 55058630 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs3767140
rs3767140
HSPG2
3 1.000 0.080 1 21888152 intron variant C/A snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs3811381
rs3811381
CR1
11 0.763 0.240 1 207616743 missense variant C/A;G snv 8.0E-06; 0.24 0.010 1.000 1 2009 2009
dbSNP: rs3813627
rs3813627
APOA2 ; TOMM40L ; MIR5187
2 1.000 0.080 1 161225358 upstream gene variant G/T snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015
dbSNP: rs4845617
rs4845617
IL6R ; IL6R-AS1
4 0.882 0.080 1 154405422 5 prime UTR variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs4845623
rs4845623
IL6R
4 0.925 0.040 1 154443301 intron variant A/G snv 0.47 0.010 1.000 1 2011 2011
dbSNP: rs4845625
rs4845625
IL6R
9 0.851 0.080 1 154449591 intron variant T/C snv 0.60 0.010 1.000 1 2015 2015