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: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2018 2018
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2017 2017
dbSNP: rs199696526
rs199696526
3 0.882 0.040 16 4786006 missense variant G/A snv 1.2E-04 5.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs215702
rs215702
3 0.925 0.040 7 32360046 intron variant G/A snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs2477686
rs2477686
7 0.807 0.040 1 2461209 intron variant G/C snv 0.64 0.010 1.000 1 2018 2018
dbSNP: rs371195126
rs371195126
3 0.882 0.040 16 4783690 missense variant C/G;T snv 2.4E-05 0.010 1.000 1 2012 2012