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: rs1129055
rs1129055
15 0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25 0.010 1.000 1 2012 2012
dbSNP: rs17281995
rs17281995
11 0.763 0.360 3 122120794 3 prime UTR variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2009 2014
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2009 2009
dbSNP: rs7015626
rs7015626
1 1.000 0.120 8 124864572 intron variant G/A snv 0.39 0.700 1.000 1 2011 2011
dbSNP: rs2980874
rs2980874
2 0.925 0.120 8 125432546 intron variant G/A snv 0.30 0.010 < 0.001 1 2014 2014
dbSNP: rs2235108
rs2235108
3 0.925 0.120 8 125436547 3 prime UTR variant G/A snv 0.25 0.010 < 0.001 1 2014 2014
dbSNP: rs2980879
rs2980879
3 0.925 0.120 8 125469233 intron variant A/T snv 0.69 0.010 < 0.001 1 2014 2014
dbSNP: rs752967378
rs752967378
3 0.882 0.160 3 12618580 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs2066827
rs2066827
21 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 0.010 1.000 1 2010 2010
dbSNP: rs1561927
rs1561927
6 0.807 0.280 8 128555832 intron variant C/T snv 0.65 0.010 1.000 1 2019 2019
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs141095230
rs141095230
2 0.925 0.120 10 129536277 missense variant C/A;T snv 8.0E-06; 5.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs12917
rs12917
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2006 2006
dbSNP: rs2308321
rs2308321
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.020 1.000 2 2006 2012
dbSNP: rs36115365
rs36115365
7 0.807 0.160 5 1313127 upstream gene variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs401681
rs401681
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.740 1.000 5 2010 2015
dbSNP: rs488087
rs488087
CEL
2 0.925 0.120 9 133071212 synonymous variant C/A;T snv 0.11 0.26 0.010 1.000 1 2015 2015
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.740 1.000 4 2009 2015
dbSNP: rs3124761
rs3124761
2 0.925 0.120 9 133474633 intron variant T/C snv 0.80 0.010 1.000 1 2019 2019
dbSNP: rs12456874
rs12456874
2 0.925 0.120 18 13366863 intron variant A/G snv 0.20 0.700 1.000 1 2014 2014
dbSNP: rs9502893
rs9502893
5 0.827 0.120 6 1339954 intergenic variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs1235228469
rs1235228469
2 0.925 0.120 3 138684714 missense variant C/A snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 0.500 2 2003 2015
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 0.500 2 2003 2015