rs864622051
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs864622051(C;T) |
Make rs864622051(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 94382700 |
Gene | SERPINA1 |
is a | snp |
is | mentioned by |
dbSNP | rs864622051 |
dbSNP (classic) | rs864622051 |
ClinGen | rs864622051 |
ebi | rs864622051 |
HLI | rs864622051 |
Exac | rs864622051 |
Gnomad | rs864622051 |
Varsome | rs864622051 |
LitVar | rs864622051 |
Map | rs864622051 |
PheGenI | rs864622051 |
Biobank | rs864622051 |
1000 genomes | rs864622051 |
hgdp | rs864622051 |
ensembl | rs864622051 |
geneview | rs864622051 |
scholar | rs864622051 |
rs864622051 | |
pharmgkb | rs864622051 |
gwascentral | rs864622051 |
openSNP | rs864622051 |
23andMe | rs864622051 |
SNPshot | rs864622051 |
SNPdbe | rs864622051 |
MSV3d | rs864622051 |
GWAS Ctlg | rs864622051 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864622051(T;T) |
Alt | rs864622051(T;T) |
Reference | Rs864622051(C;C) |
Significance | Other |
Disease | Alpha-1-antitrypsin deficiency |
Variation | info |
Gene | SERPINA1 |
CLNDBN | Alpha-1-antitrypsin deficiency |
Reversed | 1 |
HGVS | NC_000014.8:g.94849037G>A |
CLNSRC | |
CLNACC | RCV000204423.1, |