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: rs587777387
rs587777387
4 0.882 0.040 2 73914835 missense variant C/T snv 0.700 1.000 4 2014 2016
dbSNP: rs797044959
rs797044959
3 0.925 0.080 2 73914836 missense variant G/A snv 0.700 1.000 4 2014 2016
dbSNP: rs1553787619
rs1553787619
2 1.000 0.040 3 123664100 splice region variant C/A snv 0.700 1.000 1 2017 2017