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: rs56308324
rs56308324
2 0.925 0.080 17 47741840 intron variant A/T snv 9.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs2240017
rs2240017
2 0.925 0.160 17 47733553 missense variant C/G snv 4.9E-02 2.8E-02 0.020 1.000 2 2009 2016
dbSNP: rs4794067
rs4794067
7 0.807 0.280 17 47731462 upstream gene variant T/A;C snv 0.25 0.010 1.000 1 2014 2014