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: 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: rs3024505
rs3024505
10 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 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: 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
dbSNP: rs2943641
rs2943641
18 0.763 0.160 2 226229029 intergenic variant T/C snv 0.67 0.700 1.000 1 2009 2009
dbSNP: rs3087243
rs3087243
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.700 1.000 1 2011 2011
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: rs4689388
rs4689388
4 0.882 0.360 4 6268329 upstream gene variant G/A snv 0.64 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: rs11755527
rs11755527
5 0.851 0.360 6 90248512 intron variant C/G snv 0.36 0.700 1.000 1 2011 2011
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: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 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: rs2582367
rs2582367
2 1.000 0.080 8 27622508 regulatory region variant C/T snv 0.64 0.700 1.000 1 2009 2009
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: rs12722495
rs12722495
5 0.851 0.200 10 6055320 intron variant T/C snv 7.0E-02 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: rs1004446
rs1004446
7 0.827 0.240 11 2148913 intron variant G/A snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs3842727
rs3842727
TH
3 1.000 0.120 11 2163618 upstream gene variant G/T snv 0.58 0.700 1.000 1 2018 2018
dbSNP: rs3851179
rs3851179
15 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 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: 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: rs7941541
rs7941541
1 11 86147496 intergenic variant G/A snv 0.73 0.700 1.000 1 2009 2009
dbSNP: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 2 2011 2018