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: rs9979383
rs9979383
5 0.925 0.200 21 35343463 intron variant C/G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs10174238
rs10174238
14 0.724 0.200 2 191108308 intron variant G/A snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs10905284
rs10905284
4 0.882 0.200 10 8073399 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2519093
rs2519093
ABO
16 0.882 0.200 9 133266456 intron variant T/C snv 0.700 1.000 1 2019 2019
dbSNP: rs3024971
rs3024971
7 0.827 0.200 12 57099944 intron variant T/G snv 7.8E-02 7.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs440446
rs440446
8 0.807 0.200 19 44905910 missense variant C/G;T snv 0.60 0.700 1.000 1 2019 2019
dbSNP: rs7302200
rs7302200
6 0.851 0.200 12 56055651 regulatory region variant G/A snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs9271588
rs9271588
6 0.925 0.200 6 32623176 TF binding site variant T/C snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs174548
rs174548
17 0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs10774624
rs10774624
6 0.882 0.160 12 111395984 intron variant G/A snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs1800961
rs1800961
21 0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs2239630
rs2239630
6 0.925 0.160 14 23120140 upstream gene variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs2416257
rs2416257
5 0.882 0.160 5 111099792 intron variant C/G;T snv 0.800 1.000 1 2009 2009
dbSNP: rs28383314
rs28383314
5 0.925 0.160 6 32619436 regulatory region variant T/C snv 0.61 0.700 1.000 1 2016 2016
dbSNP: rs36115365
rs36115365
7 0.807 0.160 5 1313127 upstream gene variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs3865444
rs3865444
8 0.851 0.160 19 51224706 upstream gene variant C/A snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs61894547
rs61894547
4 0.882 0.160 11 76537586 intron variant C/T snv 3.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs635634
rs635634
22 0.882 0.160 9 133279427 upstream gene variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs705699
rs705699
5 0.882 0.160 12 55991020 non coding transcript exon variant G/A snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs7936323
rs7936323
6 0.882 0.160 11 76582714 intergenic variant G/A snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs112401631
rs112401631
8 0.882 0.120 17 40608272 TF binding site variant T/A snv 1.1E-02 0.700 1.000 2 2016 2019
dbSNP: rs34290285
rs34290285
8 0.851 0.120 2 241759225 intron variant G/A snv 0.27 0.700 1.000 2 2016 2019
dbSNP: rs62408225
rs62408225
2 1.000 0.120 6 90246690 intron variant A/G snv 0.26 0.700 1.000 2 2016 2019
dbSNP: rs960709
rs960709
5 0.882 0.120 5 151081488 intron variant A/G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs11820062
rs11820062
3 0.925 0.120 11 65662465 5 prime UTR variant T/C snv 0.52 0.700 1.000 1 2019 2019