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: rs2069762
rs2069762
IL2
23 0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs657152
rs657152
ABO
22 0.882 0.200 9 133263862 intron variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs12708716
rs12708716
7 0.807 0.320 16 11086016 intron variant A/G snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs1871047
rs1871047
2 1.000 0.080 19 44848489 intron variant A/G snv 0.31 0.700 1.000 1 2009 2009
dbSNP: rs2075650
rs2075650
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.700 1.000 1 2009 2009
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2011 2011
dbSNP: rs428595
rs428595
3 1.000 0.120 22 21662102 non coding transcript exon variant A/G snv 0.98 0.700 1.000 1 2018 2018
dbSNP: rs4712523
rs4712523
3 0.925 0.120 6 20657333 intron variant A/G snv 0.41 0.700 1.000 1 2009 2009
dbSNP: rs543293
rs543293
3 0.925 0.080 11 86109035 regulatory region variant A/G snv 0.72 0.700 1.000 1 2009 2009
dbSNP: rs6859
rs6859
10 0.827 0.120 19 44878777 3 prime UTR variant A/G snv 0.58 0.700 1.000 1 2009 2009
dbSNP: rs7171171
rs7171171
3 0.925 0.120 15 38614840 intergenic variant A/G snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs7528684
rs7528684
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.800 1.000 1 2011 2011
dbSNP: rs8106922
rs8106922
5 1.000 0.080 19 44898409 intron variant A/G snv 0.36 0.700 1.000 1 2009 2009
dbSNP: rs12518099
rs12518099
3 0.925 0.120 5 90250292 intron variant A/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs689
rs689
9 0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60 0.700 1.000 1 2011 2011
dbSNP: rs2304256
rs2304256
13 0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23 0.700 1.000 1 2011 2011
dbSNP: rs3788013
rs3788013
5 0.851 0.240 21 42421219 intron variant C/A snv 0.44 0.700 1.000 1 2011 2011
dbSNP: rs8103315
rs8103315
2 1.000 0.080 19 44750911 intron variant C/A snv 9.1E-02 0.700 1.000 1 2009 2009
dbSNP: rs13266634
rs13266634
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.700 1.000 1 2009 2009
dbSNP: rs11755527
rs11755527
5 0.851 0.360 6 90248512 intron variant C/G snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1048699
rs1048699
2 1.000 0.080 19 45147128 3 prime UTR variant C/T snv 9.0E-02 0.700 1.000 1 2009 2009
dbSNP: rs1114832
rs1114832
2 1.000 0.080 19 45132943 intron variant C/T snv 9.2E-02 0.700 1.000 1 2009 2009
dbSNP: rs11894266
rs11894266
2 1.000 0.080 2 169780132 downstream gene variant C/T snv 0.45 0.700 1.000 1 2009 2009
dbSNP: rs1990760
rs1990760
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.700 1.000 1 2011 2011