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: rs3774854
rs3774854
EVC ; EVC2
2 0.925 0.120 4 5709641 upstream gene variant G/A snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs4751240
rs4751240
3 0.882 0.120 10 127338145 intron variant G/A snv 9.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs9847124
rs9847124
2 0.925 0.120 3 152872973 intergenic variant T/G snv 0.14 0.700 1.000 1 2017 2017