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: rs560887
rs560887
18 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 0.800 1.000 1 2009 2009
dbSNP: rs12053049
rs12053049
2 2 168910638 intron variant T/C snv 5.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs2232326
rs2232326
3 2 168907981 missense variant T/C snv 5.1E-03 3.3E-03 0.700 1.000 1 2018 2018