Gene: SERPINA1 ×
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
dbSNP: rs6647
rs6647
SERPINA1
2 0.925 0.040 14 94381078 missense variant A/G snv 0.21 0.31 0.010 1.000 1 2010 2010