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: rs12461110
rs12461110
2 19 55809297 missense variant G/A snv 0.32 0.26 0.800 1.000 3 2012 2015
dbSNP: rs2547274
rs2547274
1 19 55798862 intron variant G/C snv 6.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs299163
rs299163
1 19 55810048 missense variant C/A;T snv 0.96 0.700 1.000 1 2019 2019