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: rs28929474
rs28929474
SERPINA1
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.800 1.000 57 1982 2019
dbSNP: rs17580
rs17580
SERPINA1
14 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.750 1.000 17 1989 2019
dbSNP: rs11558261
rs11558261
SERPINA1
3 0.882 0.160 14 94382823 missense variant C/T snv 9.1E-05 3.5E-05 0.710 1.000 1 1990 1990
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: 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: rs121912714
rs121912714
SERPINA1
4 0.882 0.160 14 94380949 missense variant T/A snv 4.7E-04 3.3E-04 0.700 1.000 7 1989 2011
dbSNP: rs199422209
rs199422209
SERPINA1
4 0.882 0.160 14 94378528 missense variant G/A;C;T snv 4.8E-05; 1.2E-05; 3.2E-05 0.700 1.000 7 1989 2016
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
dbSNP: rs55819880
rs55819880
SERPINA1
3 0.882 0.160 14 94383008 missense variant G/A snv 1.4E-04 0.700 1.000 6 1991 2011
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: rs199422211
rs199422211
SERPINA1
3 0.882 0.160 14 94381067 stop gained T/A snv 1.6E-05 7.0E-06 0.700 1.000 4 1988 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: rs764325655
rs764325655
SERPINA1
3 0.882 0.160 14 94378548 frameshift variant G/-;GG delins 4.2E-05 0.700 1.000 4 1994 2011
dbSNP: rs864622043
rs864622043
SERPINA1
1 1.000 0.160 14 94378591 frameshift variant GCAGCTTC/TGTTTTT delins 0.700 1.000 4 1989 2016
dbSNP: rs28931568
rs28931568
SERPINA1
3 0.882 0.160 14 94382966 missense variant C/T snv 0.700 1.000 2 1990 2004
dbSNP: rs28931572
rs28931572
SERPINA1
3 0.882 0.160 14 94382891 missense variant A/T snv 0.700 1.000 2 1990 2004
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: rs121912713
rs121912713
SERPINA1
5 0.851 0.200 14 94378561 missense variant A/C snv 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: rs751235320
rs751235320
SERPINA1
3 0.882 0.160 14 94382591 splice donor variant C/A snv 4.0E-06 1.4E-05 0.700 1.000 1 1993 1993
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: rs1057516212
rs1057516212
SERPINA1
3 0.925 0.160 14 94382947 frameshift variant AGTG/- delins 0.700 0