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: rs17408553
rs17408553
2 0.925 0.080 6 31271630 missense variant G/A;T snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs190589393
rs190589393
2 0.925 0.080 19 54818487 missense variant C/A snv 1.7E-05 4.2E-05 0.010 1.000 1 2017 2017