rs55819880
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | carrier for Alpha-1 Antitrypsin Deficiency |
(G;G) | 0 | common in complete genomics |
Make rs55819880(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 94383008 |
Gene | SERPINA1 |
is a | snp |
is | mentioned by |
dbSNP | rs55819880 |
dbSNP (classic) | rs55819880 |
ClinGen | rs55819880 |
ebi | rs55819880 |
HLI | rs55819880 |
Exac | rs55819880 |
Gnomad | rs55819880 |
Varsome | rs55819880 |
LitVar | rs55819880 |
Map | rs55819880 |
PheGenI | rs55819880 |
Biobank | rs55819880 |
1000 genomes | rs55819880 |
hgdp | rs55819880 |
ensembl | rs55819880 |
geneview | rs55819880 |
scholar | rs55819880 |
rs55819880 | |
pharmgkb | rs55819880 |
gwascentral | rs55819880 |
openSNP | rs55819880 |
23andMe | rs55819880 |
SNPshot | rs55819880 |
SNPdbe | rs55819880 |
MSV3d | rs55819880 |
GWAS Ctlg | rs55819880 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs55819880(T;T) |
Alt | rs55819880(T;T) |
Reference | Rs55819880(C;C) |
Significance | Other |
Disease | PI S(IIYAMA) Alpha-1-antitrypsin deficiency |
Variation | info |
Gene | SERPINA1 |
CLNDBN | PI S(IIYAMA) Alpha-1-antitrypsin deficiency |
Reversed | 1 |
HGVS | NC_000014.8:g.94849345G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019608.2, RCV000169508.3, |