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 0.100 1.000 12 1998 2019
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.020 1.000 2 2006 2013
dbSNP: rs118203945
rs118203945
MTOR ; UBIAD1
3 0.882 0.280 1 11273836 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs121913123
rs121913123
FH
4 0.882 0.360 1 241508643 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2011 2011
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 2019 2019
dbSNP: rs3783613
rs3783613
VCAM1
6 0.851 0.200 1 100731231 missense variant G/A;C snv 4.0E-06; 9.9E-03 0.010 1.000 1 2015 2015
dbSNP: rs397514669
rs397514669
UBIAD1
3 0.882 0.280 1 11285644 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4025935
rs4025935
GSTM1 ; GSTM2
1 1.000 0.080 1 109686818 intron variant GT/- delins 0.010 1.000 1 2017 2017
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2019 2019
dbSNP: rs768272475
rs768272475
SOAT1
2 0.925 0.240 1 179345018 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs876660446
rs876660446
FH
2 1.000 0.080 1 241502559 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1427407
rs1427407
BCL11A
6 0.827 0.120 2 60490908 intron variant T/C;G snv 0.710 1.000 3 2011 2019
dbSNP: rs766432
rs766432
BCL11A
6 0.925 0.080 2 60492835 intron variant C/A snv 0.80 0.700 1.000 3 2011 2014
dbSNP: rs11886868
rs11886868
BCL11A
12 0.752 0.280 2 60493111 intron variant C/T snv 0.65 0.710 1.000 2 2011 2016
dbSNP: rs4671393
rs4671393
BCL11A
11 0.790 0.400 2 60493816 intron variant A/C;G snv 0.710 1.000 2 2011 2016
dbSNP: rs10172646
rs10172646
BCL11A
2 1.000 0.080 2 60493622 intron variant G/A snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs10189857
rs10189857
BCL11A
6 1.000 0.080 2 60486100 intron variant A/G snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs10195871
rs10195871
BCL11A
2 1.000 0.080 2 60493454 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1669539
rs1669539 		2 1.000 0.080 2 105998818 intergenic variant T/C snv 7.1E-02 0.700 1.000 1 2013 2013
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs1896294
rs1896294
BCL11A
2 1.000 0.080 2 60491939 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1896295
rs1896295
BCL11A
2 1.000 0.080 2 60496951 intron variant T/C snv 0.81 0.700 1.000 1 2011 2011
dbSNP: rs1896296
rs1896296
BCL11A
2 1.000 0.080 2 60496952 intron variant G/T snv 0.80 0.700 1.000 1 2011 2011
dbSNP: rs35593994
rs35593994
CD28
1 1.000 0.080 2 203706103 upstream gene variant G/A;C snv 0.010 1.000 1 2019 2019