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: rs10402271
rs10402271
7 1.000 0.080 19 44825957 downstream gene variant T/G snv 0.28 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: rs2542151
rs2542151
11 0.763 0.480 18 12779948 upstream gene variant G/T snv 0.83 0.700 1.000 1 2011 2011
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: rs2927438
rs2927438
6 0.925 0.080 19 44738850 intergenic variant G/A snv 0.20 0.700 1.000 1 2009 2009
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: rs2965101
rs2965101
6 1.000 0.080 19 44734556 intergenic variant T/C snv 0.34 0.700 1.000 1 2009 2009
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: 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: rs439401
rs439401
8 0.851 0.200 19 44911194 non coding transcript exon variant T/C snv 0.68 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: rs7941541
rs7941541
1 11 86147496 intergenic variant G/A snv 0.73 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: rs5167
rs5167
7 1.000 0.040 19 44945208 missense variant T/A;G snv 3.6E-05; 0.39 0.700 1.000 1 2009 2009
dbSNP: rs405509
rs405509
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 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
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: 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: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 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: rs12708716
rs12708716
7 0.807 0.320 16 11086016 intron variant A/G snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs3760627
rs3760627
2 1.000 0.080 19 44953923 non coding transcript exon variant T/C snv 0.80 0.51 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: 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: rs2292239
rs2292239
13 0.742 0.480 12 56088396 intron variant T/G snv 0.65 0.700 1.000 1 2011 2011