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: rs17071138
rs17071138
2 1.000 0.080 18 63476675 upstream gene variant T/C snv 2.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs2289520
rs2289520
3 0.925 0.120 18 63493087 missense variant G/A;C snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs8089104
rs8089104
2 1.000 0.080 18 63480916 intron variant C/T snv 0.50 0.010 1.000 1 2017 2017