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: rs111945767
rs111945767
1 1.000 0.120 6 32549268 downstream gene variant G/C snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs1794282
rs1794282
6 0.807 0.320 6 32698749 intergenic variant C/T snv 6.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs231770
rs231770
1 1.000 0.120 2 203864430 upstream gene variant C/T snv 0.42 0.700 1.000 1 2015 2015
dbSNP: rs2516400
rs2516400
8 0.827 0.320 6 31513328 upstream gene variant G/A snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs2596560
rs2596560
4 0.851 0.280 6 31387541 intergenic variant T/C snv 0.22 0.700 1.000 1 2012 2012
dbSNP: rs2844657
rs2844657
3 0.882 0.240 6 30861745 upstream gene variant A/G snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs2844659
rs2844659
4 0.851 0.280 6 30856755 intergenic variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2857595
rs2857595
9 0.827 0.320 6 31600692 intergenic variant G/A snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs3094054
rs3094054
6 0.807 0.280 6 30365728 upstream gene variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs3095089
rs3095089
3 0.882 0.240 6 30966017 upstream gene variant G/T snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs3129890
rs3129890
5 0.827 0.280 6 32446496 downstream gene variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs3129963
rs3129963
4 0.851 0.280 6 32412431 downstream gene variant A/G snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs3130350
rs3130350
5 0.827 0.280 6 30360062 upstream gene variant G/T snv 7.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs3130473
rs3130473
6 0.882 0.160 6 31231431 intergenic variant C/T snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs3130544
rs3130544
10 0.807 0.360 6 31090563 intergenic variant C/A snv 7.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs3135353
rs3135353
3 0.882 0.280 6 32425100 intergenic variant C/T snv 9.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs4361859
rs4361859
1 1.000 0.120 9 97062415 regulatory region variant G/A snv 0.77 0.010 1.000 1 2007 2007
dbSNP: rs7749323
rs7749323
2 0.925 0.200 6 137909252 intergenic variant G/A snv 3.3E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs7762279
rs7762279
6 0.807 0.360 6 32787513 intergenic variant T/C snv 8.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs8058694
rs8058694
1 1.000 0.120 16 16185006 missense variant G/T snv 0.42 0.43 0.010 1.000 1 2017 2017
dbSNP: rs8058696
rs8058696
1 1.000 0.120 16 16185012 synonymous variant G/C;T snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs3132610
rs3132610
6 0.807 0.280 6 30576624 intron variant A/G snv 7.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs3761389
rs3761389
1 1.000 0.120 21 44285055 upstream gene variant G/A snv 0.14 0.020 1.000 2 2017 2017
dbSNP: rs2071591
rs2071591
2 0.925 0.160 6 31548022 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1980493
rs1980493
10 0.776 0.400 6 32395438 intron variant T/C snv 0.13 0.700 1.000 1 2012 2012