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: rs148550456
rs148550456
2 2 43124884 intron variant ACAC/-;AC;ACACAC;ACACACAC delins 0.700 1.000 1 2016 2016