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: rs756773408
rs756773408
SERPINA1
3 0.882 0.160 14 94382592 missense variant C/A snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs764325655
rs764325655
SERPINA1
3 0.882 0.160 14 94378548 frameshift variant G/-;GG delins 4.2E-05 0.700 0
dbSNP: rs775982338
rs775982338
SERPINA1
3 0.882 0.160 14 94383009 inframe deletion AGA/- delins 1.7E-04 0.700 1.000 1 1989 1989
dbSNP: rs8004738
rs8004738
SERPINA1
2 0.925 0.080 14 94390577 5 prime UTR variant G/A snv 0.55 0.010 1.000 1 2017 2017
dbSNP: rs9944155
rs9944155
SERPINA1
1 1.000 0.040 14 94377162 3 prime UTR variant C/T snv 4.3E-03 0.010 1.000 1 2018 2018