rs370038282
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs370038282(A;A) |
Make rs370038282(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 14 |
Position | 94383217 |
Gene | SERPINA1 |
is a | snp |
is | mentioned by |
dbSNP | rs370038282 |
dbSNP (classic) | rs370038282 |
ClinGen | rs370038282 |
ebi | rs370038282 |
HLI | rs370038282 |
Exac | rs370038282 |
Gnomad | rs370038282 |
Varsome | rs370038282 |
LitVar | rs370038282 |
Map | rs370038282 |
PheGenI | rs370038282 |
Biobank | rs370038282 |
1000 genomes | rs370038282 |
hgdp | rs370038282 |
ensembl | rs370038282 |
geneview | rs370038282 |
scholar | rs370038282 |
rs370038282 | |
pharmgkb | rs370038282 |
gwascentral | rs370038282 |
openSNP | rs370038282 |
23andMe | rs370038282 |
SNPshot | rs370038282 |
SNPdbe | rs370038282 |
MSV3d | rs370038282 |
GWAS Ctlg | rs370038282 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370038282(A;A) rs370038282(T;T) |
Alt | rs370038282(A;A) rs370038282(T;T) |
Reference | Rs370038282(C;C) |
Significance | Probable-Pathogenic |
Disease | Alpha-1-antitrypsin deficiency |
Variation | info |
Gene | SERPINA1 |
CLNDBN | Alpha-1-antitrypsin deficiency |
Reversed | 0 |
HGVS | NC_000014.8:g.94849554C>T |
CLNSRC | |
CLNACC | RCV000411794.1, |