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: rs891511
rs891511
4 7 151007755 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.927 41 1999 2017
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.040 1.000 4 2011 2012
dbSNP: rs3918226
rs3918226
12 0.925 0.080 7 150993088 intron variant C/T snv 5.7E-02 0.040 1.000 4 2012 2015
dbSNP: rs7830
rs7830
11 0.763 0.320 7 151012483 3 prime UTR variant G/T snv 0.38 0.32 0.020 1.000 2 2011 2015
dbSNP: rs1808593
rs1808593
3 0.925 0.080 7 151011214 intron variant G/T snv 0.77 0.010 1.000 1 2015 2015
dbSNP: rs368332097
rs368332097
1 7 150993849 missense variant G/A snv 1.3E-05 4.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs3918186
rs3918186
2 1.000 0.120 7 151005344 intron variant A/T snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs3918188
rs3918188
10 0.776 0.280 7 151005693 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs743506
rs743506
4 0.925 0.120 7 151009827 intron variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs891512
rs891512
4 0.925 0.040 7 151011001 intron variant A/G snv 0.84 0.85 0.010 1.000 1 2012 2012