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: rs1243166
rs1243166
SERPINA1
1 1.000 0.040 14 94377481 3 prime UTR variant A/G snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs2854254
rs2854254
SERPINA1
1 1.000 0.040 14 94388536 intron variant T/C snv 0.64 0.010 < 0.001 1 2017 2017
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
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