Source: ALL
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: rs1057516212
rs1057516212
SERPINA1
3 0.925 0.160 14 94382947 frameshift variant AGTG/- delins 0.700 0