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: rs10411619
rs10411619
LOC105372279
2 1.000 0.040 19 12641611 upstream gene variant T/C snv 7.0E-02 0.800 1.000 1 2014 2014
dbSNP: rs7221059
rs7221059 		2 1.000 0.040 17 76992362 intergenic variant C/A snv 0.24 0.800 1.000 1 2014 2014
dbSNP: rs7698250
rs7698250 		2 1.000 0.040 4 24514008 downstream gene variant C/T snv 2.2E-02 0.800 1.000 1 2014 2014
dbSNP: rs28929474
rs28929474
SERPINA1
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.730 1.000 4 1985 2017
dbSNP: rs10947233
rs10947233
PPT2 ; PPT2-EGFL8
4 0.925 0.160 6 32156647 intron variant G/C;T snv 3.4E-02 0.710 1.000 1 2014 2014
dbSNP: rs7957346
rs7957346
SNRPF ; CCDC38
1 1.000 0.040 12 95866696 3 prime UTR variant C/A snv 0.58 0.710 1.000 1 2014 2014
dbSNP: rs10844154
rs10844154
BICD1
2 1.000 0.040 12 32227567 non coding transcript exon variant A/C;T snv 0.54 0.700 1.000 1 2011 2011
dbSNP: rs11558261
rs11558261
SERPINA1
3 0.882 0.160 14 94382823 missense variant C/T snv 9.1E-05 3.5E-05 0.700 1.000 1 1990 1990
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 1 1989 1989
dbSNP: rs28931568
rs28931568
SERPINA1
3 0.882 0.160 14 94382966 missense variant C/T snv 0.700 1.000 1 1990 1990
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 1 1988 1988
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 1 1989 1989
dbSNP: rs28931572
rs28931572
SERPINA1
3 0.882 0.160 14 94382891 missense variant A/T snv 0.700 1.000 1 1990 1990
dbSNP: rs55819880
rs55819880
SERPINA1
3 0.882 0.160 14 94383008 missense variant G/A snv 1.4E-04 0.700 1.000 1 1993 1993
dbSNP: rs641525
rs641525 		2 1.000 0.040 8 2882980 intergenic variant T/G snv 0.17 0.700 1.000 1 2011 2011
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: rs7905537
rs7905537 		2 1.000 0.040 10 33942347 intergenic variant A/C snv 0.23 0.700 1.000 1 2011 2011
dbSNP: rs121912713
rs121912713
SERPINA1
5 0.851 0.200 14 94378561 missense variant A/C snv 0.700 0
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: rs17580
rs17580
SERPINA1
14 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.700 0