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: rs11591147
rs11591147
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.800 1.000 5 2012 2019
dbSNP: rs1532085
rs1532085
13 0.882 0.080 15 58391167 intron variant A/G;T snv 0.800 1.000 5 2009 2018
dbSNP: rs4299376
rs4299376
11 0.851 0.120 2 43845437 intron variant G/C;T snv 0.800 1.000 5 2010 2019
dbSNP: rs599839
rs599839
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.800 1.000 5 2012 2019
dbSNP: rs10889353
rs10889353
5 1 62652525 intron variant A/C;T snv 0.800 1.000 4 2009 2019
dbSNP: rs11207995
rs11207995
4 1 62583880 intron variant A/C;G snv 0.800 1.000 4 2013 2019
dbSNP: rs1169288
rs1169288
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.800 1.000 4 2010 2018
dbSNP: rs1800588
rs1800588
16 0.790 0.200 15 58431476 intron variant C/G;T snv 0.30 0.800 1.000 4 2012 2018
dbSNP: rs2255141
rs2255141
5 10 112174128 intron variant A/G;T snv 0.800 1.000 4 2010 2019
dbSNP: rs2814982
rs2814982
2 6 34578783 upstream gene variant C/G;T snv 0.800 1.000 4 2010 2018
dbSNP: rs507666
rs507666
ABO
8 1.000 0.040 9 133273983 intron variant A/G snv 0.800 1.000 4 2013 2019
dbSNP: rs635634
rs635634
22 0.882 0.160 9 133279427 upstream gene variant T/A;C snv 0.800 1.000 4 2010 2019
dbSNP: rs7499892
rs7499892
7 16 56972678 intron variant C/G;T snv 0.800 1.000 4 2012 2019
dbSNP: rs1065853
rs1065853
5 19 44909976 non coding transcript exon variant G/A;C;T snv 0.700 1.000 3 2017 2019
dbSNP: rs17231506
rs17231506
10 0.851 0.040 16 56960616 upstream gene variant C/G;T snv 0.28 0.800 1.000 3 2012 2019
dbSNP: rs1748195
rs1748195
8 0.851 0.120 1 62583922 intron variant C/G;T snv 0.800 1.000 3 2012 2019
dbSNP: rs1800775
rs1800775
18 0.790 0.240 16 56961324 upstream gene variant C/A;G snv 0.51; 5.7E-06 0.800 1.000 3 2012 2019
dbSNP: rs2072183
rs2072183
6 0.925 0.040 7 44539581 synonymous variant G/A;C snv 4.0E-06; 0.25 0.800 1.000 3 2010 2017
dbSNP: rs2075290
rs2075290
10 0.882 0.160 11 116782580 intron variant C/G;T snv 0.800 1.000 3 2012 2019
dbSNP: rs2228671
rs2228671
14 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.800 1.000 3 2009 2019
dbSNP: rs28362263
rs28362263
3 1.000 0.080 1 55058182 missense variant G/A;C snv 7.2E-03 0.700 1.000 3 2018 2019
dbSNP: rs28927680
rs28927680
4 11 116748357 3 prime UTR variant C/G;T snv 0.800 1.000 3 2012 2019
dbSNP: rs2980875
rs2980875
6 8 125469505 intron variant A/C;G;T snv 0.800 1.000 3 2012 2019
dbSNP: rs3135506
rs3135506
26 0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02 0.700 1.000 3 2018 2019
dbSNP: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 3 2012 2018