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: rs4733616
rs4733616
3 0.882 0.120 8 127649850 intergenic variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs4912913
rs4912913
5 0.827 0.120 5 143438741 upstream gene variant T/C snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs917997
rs917997
17 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs9502893
rs9502893
3 0.827 0.120 6 1339954 intergenic variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs9564966
rs9564966
4 0.851 0.120 13 73322084 intergenic variant A/G snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs9981660
rs9981660
3 0.882 0.080 21 42317828 upstream gene variant G/A snv 0.11 0.010 1.000 1 2013 2013
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 0.750 4 2008 2017
dbSNP: rs2032582
rs2032582
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: rs1305398818
rs1305398818
4 0.925 0.080 4 88131886 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs505922
rs505922
ABO
20 0.689 0.520 9 133273813 intron variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs6586161
rs6586161
2 0.925 0.080 10 88981502 intron variant T/A snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs11896604
rs11896604
8 0.776 0.200 2 54252062 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs6713088
rs6713088
9 0.763 0.200 2 54118332 intron variant C/G snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs17045754
rs17045754
7 0.790 0.280 2 54269620 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs843706
rs843706
6 0.807 0.160 2 54253232 3 prime UTR variant C/A snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs4963
rs4963
6 0.827 0.120 4 2915035 missense variant C/G;T snv 0.20 0.18 0.010 1.000 1 2015 2015
dbSNP: rs1229984
rs1229984
60 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.020 0.500 2 2012 2016
dbSNP: rs17033
rs17033
2 0.925 0.080 4 99307788 3 prime UTR variant T/C snv 9.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs283411
rs283411
2 0.925 0.080 4 99344800 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs822395
rs822395
10 0.776 0.240 3 186849018 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs12733285
rs12733285
12 0.776 0.120 1 202952912 intron variant C/T snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs1342387
rs1342387
12 0.776 0.120 1 202945228 intron variant T/C snv 0.53 0.010 1.000 1 2015 2015
dbSNP: rs184003
rs184003
15 0.724 0.400 6 32182519 intron variant C/A snv 0.12 0.12 0.020 1.000 2 2017 2019
dbSNP: rs2070600
rs2070600
75 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.020 1.000 2 2008 2014