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: rs61761869
rs61761869
SERPINA1
1 1.000 0.160 14 94378529 missense variant G/A;T snv 2.9E-04 0.700 1.000 12 1989 2016
dbSNP: rs199422210
rs199422210
SERPINA1
1 1.000 0.160 14 94382686 stop gained G/A;C;T snv 1.9E-04; 1.6E-05; 4.0E-06 0.700 1.000 4 1987 2008
dbSNP: rs763023697
rs763023697
SERPINA1
1 1.000 0.160 14 94378576 frameshift variant A/-;AA delins 0.700 1.000 4 1989 2016
dbSNP: rs864622043
rs864622043
SERPINA1
1 1.000 0.160 14 94378591 frameshift variant GCAGCTTC/TGTTTTT delins 0.700 1.000 4 1989 2016
dbSNP: rs764220898
rs764220898
SERPINA1
1 1.000 0.160 14 94381043 missense variant C/G;T snv 8.0E-06; 1.2E-05 0.700 1.000 2 2009 2011
dbSNP: rs1057519610
rs1057519610
SERPINA1
1 1.000 0.160 14 94379501 frameshift variant AG/- delins 0.700 1.000 1 2004 2004
dbSNP: rs1445192595
rs1445192595
SERPINA1
1 1.000 0.160 14 94381134 stop gained C/A;T snv 7.0E-06 0.700 1.000 1 1998 1998
dbSNP: rs2896268
rs2896268 		1 1.000 0.160 14 94399371 intergenic variant A/C snv 0.55 0.010 1.000 1 2015 2015
dbSNP: rs762321137
rs762321137
SERPINA1
1 1.000 0.160 14 94383052 stop gained G/T snv 4.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs864622051
rs864622051
SERPINA1
1 1.000 0.160 14 94382700 stop gained G/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs1057516448
rs1057516448
SERPINA1
1 1.000 0.160 14 94381074 frameshift variant G/- delins 0.700 0
dbSNP: rs1057516555
rs1057516555
SERPINA1
1 1.000 0.160 14 94383237 start lost T/C snv 0.700 0
dbSNP: rs1057516929
rs1057516929
SERPINA1
1 1.000 0.160 14 94379511 frameshift variant C/- delins 0.700 0
dbSNP: rs112661131
rs112661131
SERPINA1
1 1.000 0.160 14 94382590 splice donor variant A/G snv 1.2E-05 4.9E-05 0.700 0
dbSNP: rs113817720
rs113817720
SERPINA1
1 1.000 0.160 14 94382994 missense variant C/G;T snv 1.4E-04 1.1E-04 0.700 0
dbSNP: rs1488213352
rs1488213352
SERPINA1
1 1.000 0.160 14 94378480 missense variant A/G snv 8.0E-06 0.700 0
dbSNP: rs1555367897
rs1555367897
SERPINA1
1 1.000 0.160 14 94378641 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1555368557
rs1555368557
SERPINA1
1 1.000 0.160 14 94380921 frameshift variant -/T delins 0.700 0
dbSNP: rs1555368758
rs1555368758
SERPINA1
1 1.000 0.160 14 94381141 splice acceptor variant C/- delins 0.700 0
dbSNP: rs1566753480
rs1566753480
SERPINA1
1 1.000 0.160 14 94380955 missense variant A/G snv 0.700 0
dbSNP: rs1566756379
rs1566756379
SERPINA1
1 1.000 0.160 14 94382652 frameshift variant AA/T delins 0.700 0
dbSNP: rs370038282
rs370038282
SERPINA1
1 1.000 0.160 14 94383217 stop gained C/A;T snv 8.1E-06 0.700 0
dbSNP: rs28931570
rs28931570
SERPINA1
3 0.882 0.160 14 94383051 missense variant G/A snv 1.1E-03 1.5E-03 0.700 1.000 11 1987 2016
dbSNP: rs775982338
rs775982338
SERPINA1
3 0.882 0.160 14 94383009 inframe deletion AGA/- delins 1.7E-04 0.700 1.000 9 1983 2014
dbSNP: rs28931569
rs28931569
SERPINA1
3 0.882 0.160 14 94383044 missense variant A/G snv 4.4E-05 3.5E-05 0.700 1.000 6 1988 2014