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: rs12678919
rs12678919
10 0.882 0.080 8 19986711 intergenic variant A/G snv 1.0E-01 0.800 1.000 13 2009 2019
dbSNP: rs2954029
rs2954029
14 0.807 0.160 8 125478730 intron variant A/T snv 0.42 0.800 1.000 13 2009 2019
dbSNP: rs439401
rs439401
8 0.851 0.200 19 44911194 non coding transcript exon variant T/C snv 0.68 0.800 1.000 8 2009 2019
dbSNP: rs10096633
rs10096633
8 1.000 0.040 8 19973410 regulatory region variant C/T snv 0.22 0.800 1.000 6 2009 2019
dbSNP: rs10503669
rs10503669
8 0.925 0.080 8 19990179 intergenic variant C/A snv 8.4E-02 0.800 1.000 6 2008 2019
dbSNP: rs17482753
rs17482753
8 1.000 0.080 8 19975135 regulatory region variant G/T snv 8.8E-02 0.800 1.000 6 2007 2019
dbSNP: rs2068888
rs2068888
5 10 93079885 downstream gene variant G/A snv 0.42 0.800 1.000 6 2010 2019
dbSNP: rs3764261
rs3764261
26 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.800 1.000 6 2009 2018
dbSNP: rs2954021
rs2954021
15 1.000 0.040 8 125469835 intron variant A/G snv 0.54 0.700 1.000 5 2017 2019
dbSNP: rs7350481
rs7350481
8 0.882 0.040 11 116715567 regulatory region variant T/C snv 0.93 0.700 1.000 5 2010 2019
dbSNP: rs10808546
rs10808546
7 8 125483576 intron variant C/T snv 0.39 0.800 1.000 4 2012 2019
dbSNP: rs115849089
rs115849089
7 8 20054859 intergenic variant G/A snv 9.8E-02 0.700 1.000 4 2015 2019
dbSNP: rs12130333
rs12130333
4 1.000 0.080 1 62726106 regulatory region variant C/T snv 0.16 0.800 1.000 4 2008 2019
dbSNP: rs12272004
rs12272004
5 1.000 0.040 11 116733008 TF binding site variant C/A snv 9.8E-02 0.800 1.000 4 2009 2019
dbSNP: rs1495741
rs1495741
9 0.827 0.240 8 18415371 regulatory region variant G/A snv 0.71 0.800 1.000 4 2010 2019
dbSNP: rs17321515
rs17321515
16 0.776 0.200 8 125474167 intron variant A/G snv 0.49 0.800 1.000 4 2008 2019
dbSNP: rs17410962
rs17410962
7 1.000 0.040 8 19990569 intergenic variant G/A snv 0.15 0.800 1.000 4 2012 2019
dbSNP: rs2954022
rs2954022
4 8 125470379 intron variant C/A;T snv 0.700 1.000 4 2017 2019
dbSNP: rs2954031
rs2954031
9 8 125479491 intron variant G/T snv 0.42 0.800 1.000 4 2012 2019
dbSNP: rs2972146
rs2972146
9 0.882 0.040 2 226235982 intergenic variant G/T snv 0.72 0.800 1.000 4 2010 2018
dbSNP: rs2980875
rs2980875
6 8 125469505 intron variant A/C;G;T snv 0.800 1.000 4 2012 2019
dbSNP: rs6065906
rs6065906
6 20 45925376 downstream gene variant T/A;C;G snv 0.800 1.000 4 2010 2019
dbSNP: rs1260333
rs1260333
12 0.882 0.160 2 27525757 downstream gene variant A/G snv 0.58 0.800 1.000 3 2010 2019
dbSNP: rs12748152
rs12748152
8 1.000 0.120 1 26811902 upstream gene variant C/T snv 5.7E-02 0.800 1.000 3 2013 2018
dbSNP: rs1495743
rs1495743
6 8 18415790 intergenic variant G/A;C snv 0.700 1.000 3 2018 2019