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: 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: 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: rs4671393
rs4671393
BCL11A
11 0.790 0.400 2 60493816 intron variant A/C;G snv 0.710 1.000 2 2011 2016
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: rs10195871
rs10195871
BCL11A
2 1.000 0.080 2 60493454 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1063320
rs1063320
HLA-G
12 0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs10901080
rs10901080
ASS1
1 1.000 0.080 9 130483269 intron variant G/A;C;T snv 0.010 1.000 1 2016 2016
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: rs1896294
rs1896294
BCL11A
2 1.000 0.080 2 60491939 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs28384513
rs28384513
HBS1L
1 1.000 0.080 6 135055071 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs3024719
rs3024719
PROZ
2 0.925 0.080 13 113159911 intron variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs3024731
rs3024731
PROZ
3 0.925 0.080 13 113164394 intron variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs33389
rs33389
NR3C1
4 0.882 0.280 5 143320934 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs33949486
rs33949486
HBB
1 1.000 0.080 11 5225632 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 1998 1998
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
dbSNP: rs35685045
rs35685045
ANTXR1
1 1.000 0.080 2 69098684 intron variant C/G;T snv 0.010 1.000 1 2018 2018
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: rs4025935
rs4025935
GSTM1 ; GSTM2
1 1.000 0.080 1 109686818 intron variant GT/- delins 0.010 1.000 1 2017 2017
dbSNP: rs4149637
rs4149637
TNFRSF1A
4 0.851 0.320 12 6333835 missense variant G/A;C snv 5.7E-03 0.010 1.000 1 2005 2005
dbSNP: rs4234795
rs4234795
SORCS2
1 1.000 0.080 4 7209075 intron variant A/C;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs6706648
rs6706648
BCL11A
2 1.000 0.080 2 60494905 intron variant C/G;T snv 0.700 1.000 1 2011 2011