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 0.810 1.000 4 2009 2018
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 1.000 3 2007 2018
dbSNP: rs17860508
rs17860508
LOC285626
11 0.752 0.360 5 159333192 intron variant TTAGAG/GC delins 0.020 1.000 2 2010 2018
dbSNP: rs281864519
rs281864519
HBB
1 1.000 0.040 11 5227003 frameshift variant CA/- del 0.700 1.000 2 2009 2012
dbSNP: rs11198918
rs11198918
GRK5
1 1.000 0.040 10 119423068 intron variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs113449872
rs113449872 		1 1.000 0.040 5 43909241 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs114169033
rs114169033
FRG1-DT
1 1.000 0.040 4 189796550 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1193689718
rs1193689718
PKLR
2 0.925 0.080 1 155294335 frameshift variant -/C delins 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1206846668
rs1206846668
FOLH1
16 0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs1211375
rs1211375
LUC7L
4 1.000 0.040 16 190281 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs12405994
rs12405994
LOC105378806
1 1.000 0.040 1 75969735 intron variant A/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs12801757
rs12801757
MMP26
1 1.000 0.040 11 4785824 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1372834938
rs1372834938
KIDINS220
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs1463502008
rs1463502008
PRH1 ; PRH2 ; PRR4 ; PRH1-PRR4
2 0.925 0.040 12 10930275 missense variant G/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1466161664
rs1466161664
DHFR
1 1.000 0.040 5 80633925 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs149085856
rs149085856 		1 1.000 0.040 17 12496210 intergenic variant C/-;CC;CCC delins 0.700 1.000 1 2018 2018
dbSNP: rs1505209
rs1505209 		1 1.000 0.040 11 4571047 downstream gene variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2009 2009
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2014 2014
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs2069705
rs2069705
IFNG ; IFNG-AS1
19 0.695 0.440 12 68161231 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs281865545
rs281865545
PECAM1
18 0.695 0.360 17 64377836 missense variant C/G;T snv 0.010 1.000 1 2001 2001
dbSNP: rs3133394
rs3133394
LOC105369574
1 1.000 0.040 11 130547627 upstream gene variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs33930165
rs33930165
HBB
5 0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs352140
rs352140
TLR9
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2012 2012