rs762321137
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs762321137(G;T) |
Make rs762321137(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 14 |
Position | 94383052 |
Gene | SERPINA1 |
is a | snp |
is | mentioned by |
dbSNP | rs762321137 |
dbSNP (classic) | rs762321137 |
ClinGen | rs762321137 |
ebi | rs762321137 |
HLI | rs762321137 |
Exac | rs762321137 |
Gnomad | rs762321137 |
Varsome | rs762321137 |
LitVar | rs762321137 |
Map | rs762321137 |
PheGenI | rs762321137 |
Biobank | rs762321137 |
1000 genomes | rs762321137 |
hgdp | rs762321137 |
ensembl | rs762321137 |
geneview | rs762321137 |
scholar | rs762321137 |
rs762321137 | |
pharmgkb | rs762321137 |
gwascentral | rs762321137 |
openSNP | rs762321137 |
23andMe | rs762321137 |
SNPshot | rs762321137 |
SNPdbe | rs762321137 |
MSV3d | rs762321137 |
GWAS Ctlg | rs762321137 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762321137(T;T) |
Alt | rs762321137(T;T) |
Reference | Rs762321137(G;G) |
Significance | Probable-Pathogenic |
Disease | Alpha-1-antitrypsin deficiency |
Variation | info |
Gene | SERPINA1 |
CLNDBN | Alpha-1-antitrypsin deficiency |
Reversed | 0 |
HGVS | NC_000014.8:g.94849389G>T |
CLNSRC | |
CLNACC | RCV000409474.1, |