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: rs290227
rs290227
SYK
1 1.000 0.120 9 90874382 intron variant G/A snv 0.30 0.810 1.000 1 2013 2013
dbSNP: rs10491487
rs10491487
1 1.000 0.120 5 81027549 intron variant T/G snv 8.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs117834366
rs117834366
2 0.925 0.120 7 147937799 intron variant G/A snv 1.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs12007229
rs12007229
1 1.000 0.120 X 67528513 upstream gene variant C/A snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs2497931
rs2497931
1 1.000 0.120 X 67436434 intergenic variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs26906
rs26906
1 1.000 0.120 5 81069068 intron variant T/C snv 0.86 0.700 1.000 1 2012 2012
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.700 1.000 1 2019 2019
dbSNP: rs4485213
rs4485213
1 1.000 0.120 13 105256524 intergenic variant C/T snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2000 2015
dbSNP: rs4986938
rs4986938
35 0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33 0.020 1.000 2 2009 2012
dbSNP: rs5882
rs5882
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.020 1.000 2 2009 2018
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2014 2014
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1333049
rs1333049
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs140701
rs140701
7 0.790 0.200 17 30211514 intron variant C/T snv 0.40 0.010 1.000 1 2010 2010
dbSNP: rs17501010
rs17501010
5 0.827 0.320 3 190308865 intron variant G/T snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs1799990
rs1799990
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 1.000 1 2007 2007
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2006 2006
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2012 2012
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2012 2012
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2012 2012
dbSNP: rs3813034
rs3813034
8 0.827 0.160 17 30197786 3 prime UTR variant A/C snv 0.40 0.010 1.000 1 2010 2010
dbSNP: rs4795541
rs4795541
7 0.807 0.200 17 30237299 upstream gene variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs4925
rs4925
28 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 0.010 1.000 1 2007 2007
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2014 2014