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: rs587777019
rs587777019
3 0.882 0.120 19 3113412 missense variant T/A snv 0.800 1.000 1 2013 2013
dbSNP: rs672601249
rs672601249
1 1.000 0.040 19 3115061 inframe deletion ATC/- delins 0.700 0