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: rs619586
rs619586
15 0.724 0.360 11 65498698 non coding transcript exon variant A/G snv 5.9E-02 3.3E-02 0.050 0.800 5 2012 2019
dbSNP: rs3200401
rs3200401
11 0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17 0.010 < 0.001 1 2019 2019
dbSNP: rs4102217
rs4102217
2 0.925 0.120 11 65496424 upstream gene variant G/C snv 0.15 0.010 1.000 1 2018 2018