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: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.850 1.000 12 1957 2018
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: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.050 1.000 5 1998 2013
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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2013 2017
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: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 1.000 2 2006 2013
dbSNP: rs7203560
rs7203560
NPRL3
7 1.000 0.080 16 134391 intron variant T/G snv 2.0E-02 0.710 1.000 1 2013 2013
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: rs11968814
rs11968814 		2 1.000 0.080 6 71067268 intergenic variant G/A snv 4.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs1318772
rs1318772
MCC
2 1.000 0.080 5 113387870 intron variant A/G snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs144995469
rs144995469 		1 1.000 0.080 14 56732364 upstream gene variant C/T snv 8.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs146893001
rs146893001
PTPN3
1 1.000 0.080 9 109419337 intron variant T/C snv 3.9E-03 0.700 1.000 1 2017 2017
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: 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: rs2445284
rs2445284 		1 1.000 0.080 11 5008473 downstream gene variant C/T snv 0.57 0.700 1.000 1 2013 2013
dbSNP: rs3115229
rs3115229 		1 1.000 0.080 4 122088578 upstream gene variant T/C snv 9.9E-03 0.700 1.000 1 2017 2017
dbSNP: rs3864785
rs3864785 		1 1.000 0.080 9 7603506 intergenic variant G/C snv 0.89 0.700 1.000 1 2012 2012