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 2000 2014
dbSNP: rs768963
rs768963
CACTIN
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
FABP2
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
SERPINE1
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.020 1.000 2 2014 2018
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 1.000 2 2015 2019
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.020 1.000 2 2008 2017
dbSNP: rs2241883
rs2241883
FABP1
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
TBXA2R
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
TLR4
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
TLR4
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
dbSNP: rs9551963
rs9551963
ALOX5AP
6 0.851 0.160 13 30758410 intron variant A/C;T snv 0.020 1.000 2 2012 2014
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs10304
rs10304
SMTN ; SELENOM
2 0.925 0.120 22 31104550 3 prime UTR variant G/A snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2004 2004
dbSNP: rs1044006
rs1044006
NOTCH3
1 1.000 0.120 19 15174241 synonymous variant T/A;C snv 0.86 0.010 1.000 1 2016 2016
dbSNP: rs1044009
rs1044009
NOTCH3
1 1.000 0.120 19 15160960 missense variant G/A snv 0.71 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1050283
rs1050283
OLR1
4 0.882 0.160 12 10159690 3 prime UTR variant G/A snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs10507391
rs10507391
ALOX5AP
10 0.776 0.320 13 30737959 intron variant A/T snv 0.52 0.010 < 0.001 1 2015 2015
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs1057335
rs1057335
SERPINF2
5 0.827 0.120 17 1754359 missense variant G/A snv 0.22 0.20 0.010 1.000 1 2019 2019
dbSNP: rs1059703
rs1059703
IRAK1
6 0.851 0.280 X 154013378 missense variant G/A snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs10780199
rs10780199
CACNA1B
1 1.000 0.120 9 138058845 intron variant G/A snv 0.36 0.010 1.000 1 2010 2010
dbSNP: rs10846744
rs10846744
SCARB1
11 0.763 0.160 12 124827879 intron variant G/C snv 0.32 0.010 1.000 1 2017 2017