SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057516212
rs1057516212
0.925 0.160 14 94382947 frameshift variant AGTG/- delins
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
Respiratory Tract Diseases 0.700 0
dbSNP: rs6647
rs6647
0.925 0.040 14 94381078 missense variant A/G snv 0.21 0.31
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
Respiratory Tract Diseases 0.010 1.000 1 2010 2010