rs1057516555
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1057516555(A;G) |
Make rs1057516555(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 14 |
Position | 94383237 |
Gene | SERPINA1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516555 |
dbSNP (classic) | rs1057516555 |
ClinGen | rs1057516555 |
ebi | rs1057516555 |
HLI | rs1057516555 |
Exac | rs1057516555 |
Gnomad | rs1057516555 |
Varsome | rs1057516555 |
LitVar | rs1057516555 |
Map | rs1057516555 |
PheGenI | rs1057516555 |
Biobank | rs1057516555 |
1000 genomes | rs1057516555 |
hgdp | rs1057516555 |
ensembl | rs1057516555 |
geneview | rs1057516555 |
scholar | rs1057516555 |
rs1057516555 | |
pharmgkb | rs1057516555 |
gwascentral | rs1057516555 |
openSNP | rs1057516555 |
23andMe | rs1057516555 |
SNPshot | rs1057516555 |
SNPdbe | rs1057516555 |
MSV3d | rs1057516555 |
GWAS Ctlg | rs1057516555 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516555(G;G) |
Alt | rs1057516555(G;G) |
Reference | Rs1057516555(A;A) |
Significance | Probable-Pathogenic |
Disease | Alpha-1-antitrypsin deficiency |
Variation | info |
Gene | SERPINA1 |
CLNDBN | Alpha-1-antitrypsin deficiency |
Reversed | 1 |
HGVS | NC_000014.8:g.94849574T>C |
CLNSRC | |
CLNACC | RCV000411735.1, |