Source: CLINVAR ×
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
6 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.710 1.000 1 1985 2015
dbSNP: rs1008438
rs1008438
HSPA1A ; HSPA1L
1 0.807 0.120 6 31815431 upstream gene variant A/C;T snv 0.710 1.000 0 2019 2019
dbSNP: rs17580
rs17580
SERPINA1
4 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.710 1.000 0 2015 2015
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: 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: rs1043618
rs1043618
HSPA1A ; HSPA1L
1 0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06 0.700 0
dbSNP: rs1061581
rs1061581
HSPA1A ; HSPA1L
1 0.827 0.200 6 31816809 synonymous variant G/A snv 0.700 0
dbSNP: rs113993959
rs113993959
CFTR
19 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
dbSNP: rs121912713
rs121912713
SERPINA1
3 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: rs1567608853
rs1567608853
CYBA
6 0.925 0.160 16 88646212 non coding transcript exon variant G/C snv 0.700 0
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 0
dbSNP: rs199422211
rs199422211
SERPINA1
3 0.882 0.160 14 94381067 stop gained T/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs2227956
rs2227956
HSPA1L
1 0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87 0.700 0