Source: BEFREE ×
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: rs6025
rs6025
F5
34 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.740 0.400 4 1996 2016
dbSNP: rs2200733
rs2200733 		11 0.752 0.240 4 110789013 intergenic variant C/T snv 0.18 0.730 0.750 3 2008 2016
dbSNP: rs10744777
rs10744777
ALDH2
1 1.000 0.080 12 111795214 intron variant T/C snv 0.53 0.720 1.000 2 2014 2018
dbSNP: rs1799963
rs1799963
F2
18 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.720 1.000 2 2015 2016
dbSNP: rs505922
rs505922
ABO
20 0.689 0.520 9 133273813 intron variant C/T snv 0.720 1.000 2 2013 2018
dbSNP: rs529565
rs529565
ABO
2 0.851 0.120 9 133274084 intron variant C/T snv 0.720 0.667 2 2016 2018
dbSNP: rs11196288
rs11196288 		2 1.000 0.080 10 113297684 regulatory region variant A/G snv 5.5E-02 0.710 1.000 1 2016 2017
dbSNP: rs2107595
rs2107595 		13 0.732 0.280 7 19009765 regulatory region variant G/A snv 0.19 0.710 0.667 1 2015 2018
dbSNP: rs7193343
rs7193343
ZFHX3
2 0.882 0.120 16 72995261 intron variant T/A;C snv 0.710 1.000 1 2014 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.923 52 1999 2019
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 1.000 20 2005 2019
dbSNP: rs12425791
rs12425791 		4 0.882 0.120 12 674318 downstream gene variant G/A;C snv 0.100 0.857 14 2009 2019
dbSNP: rs662
rs662
PON1
153 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.100 0.929 14 2000 2019
dbSNP: rs11833579
rs11833579 		6 0.827 0.200 12 666033 upstream gene variant G/A snv 0.25 0.100 0.846 13 2011 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.909 11 2006 2018
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.090 0.778 9 2001 2013
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
42 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.080 0.875 8 2010 2020
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.080 0.875 8 2014 2019
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.080 0.875 8 2014 2019
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
110 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.070 0.571 7 2014 2019
dbSNP: rs1801133
rs1801133
MTHFR
169 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.070 1.000 7 2004 2018
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.060 0.833 6 2010 2019
dbSNP: rs2108622
rs2108622
CYP4F2
17 0.742 0.280 19 15879621 missense variant C/T snv 0.27 0.22 0.060 1.000 6 2008 2018
dbSNP: rs375752214
rs375752214
NOS3
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.060 1.000 6 2006 2017
dbSNP: rs3918242
rs3918242
MMP9
53 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.060 1.000 6 2015 2020