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: rs133049
rs133049
4 0.882 0.080 22 40635351 intron variant A/- delins 0.82 0.010 1.000 1 2020 2020