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: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2010 2017
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: rs121912713
rs121912713
SERPINA1
5 0.851 0.200 14 94378561 missense variant A/C snv 0.700 1.000 1 2004 2004
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: 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: 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: 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: 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: rs2217332
rs2217332
HERPUD1
4 0.882 0.160 16 56935236 missense variant G/A snv 0.15 0.14 0.010 1.000 1 2017 2017
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: rs1457464431
rs1457464431
SERPINA1
3 0.882 0.160 14 94383069 missense variant A/G snv 0.700 0
dbSNP: rs1555367891
rs1555367891
SERPINA1
3 0.882 0.160 14 94378633 missense variant T/C snv 0.700 0
dbSNP: rs1555367892
rs1555367892
SERPINA1
3 0.882 0.160 14 94378633 frameshift variant TG/- del 0.700 0
dbSNP: rs1555367896
rs1555367896
SERPINA1
3 0.882 0.160 14 94378640 splice donor variant GGAGGGGAGAGAAGCAGAGACACGTTGTAAGGCTGATCCCAGGCCTCGAGCAAGGCTCACGTGGACACCTCCCAGGAAGCGCTCACTCCCCCTGGACGGCCCTGGCCCTGCACATCCTCTCCCTCCCTGTCACATAGGCCTTGCTCCTCCTCAAGGCTTTGGCTGATGGGGCTGGCTCCCCTCTGTCCATCTTCCTGACAAGCGCCTCTCCCCCTGCTCAGGTGCACCCACAACTCAGAACAGGGAAGAGCATCGTCACTCCACGTCTGCCTCCAGGGCTCTCTCCTTTCTAGTACACGGCTTGAAGCTCCTTGAGGACACGGACCCTGGCAGTGACCTTCACAGTGCCCAGACCCCAAGATAATGCAGCCATTCATGGAACTGCAGTTGTTCATTGGTCGCCTTTAGTTTTCCAAAATAAGTGTCATCTTTAGCTGAAATCATTCATTAATTCAGACACCAAATCTCACAGATCGAAGGAGTCAGAAATTCCTTTGAAACAACTTAGCCCAAACCTTTCTGTGTCAGTATGGATAAATCAAGGCCCAATGTCTAGAAGGTCTTGGGCAAAGTTGAAATTCAGGGTCAGTGACACAACCTCAAGGGAGGCCCCGAAAGTGCCAGCTGCACAGCAGTCCCCTGCCTGGCTTTGCTGTTTGACCACGTCCCGTGTCAGTGAATCACGGGCATCTTCAGGAGCTCAGCCTGGGTCTTCATTTGTTTCCCTCGGCCCCTTCCTCAGCCTCAGGACAGAGCTGCAGCCCCCACACATTCTTCCCTACAGATACCAGGGTGCAACAAGGTCGTCAGGGTGATCTCACCT/- delins 0.700 0
dbSNP: rs1555369172
rs1555369172
SERPINA1
3 0.882 0.160 14 94383011 missense variant A/G snv 0.700 0
dbSNP: rs1555369299
rs1555369299
SERPINA1
3 0.882 0.160 14 94383237 start lost T/- delins 0.700 0
dbSNP: rs267606950
rs267606950
SERPINA1
3 0.882 0.160 14 94382686 frameshift variant G/- del 1.4E-05 0.700 0
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