rs20546
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs20546(C;T) |
Make rs20546(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 14 |
Position | 94382814 |
Gene | SERPINA1 |
is a | snp |
is | mentioned by |
dbSNP | rs20546 |
dbSNP (classic) | rs20546 |
ClinGen | rs20546 |
ebi | rs20546 |
HLI | rs20546 |
Exac | rs20546 |
Gnomad | rs20546 |
Varsome | rs20546 |
LitVar | rs20546 |
Map | rs20546 |
PheGenI | rs20546 |
Biobank | rs20546 |
1000 genomes | rs20546 |
hgdp | rs20546 |
ensembl | rs20546 |
geneview | rs20546 |
scholar | rs20546 |
rs20546 | |
pharmgkb | rs20546 |
gwascentral | rs20546 |
openSNP | rs20546 |
23andMe | rs20546 |
SNPshot | rs20546 |
SNPdbe | rs20546 |
MSV3d | rs20546 |
GWAS Ctlg | rs20546 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs20546(T;T) |
Alt | rs20546(T;T) |
Reference | Rs20546(C;C) |
Significance | Probable-non-pathogenic |
Disease | not specified Alpha-1-antitrypsin deficiency |
Variation | info |
Gene | SERPINA1 |
CLNDBN | not specified Alpha-1-antitrypsin deficiency |
Reversed | 1 |
HGVS | NC_000014.8:g.94849151G>A |
CLNSRC | |
CLNACC | RCV000155575.2, RCV000405780.1, |