rs112661131
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs112661131(A;G) |
Make rs112661131(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 14 |
Position | 94382590 |
Gene | SERPINA1 |
is a | snp |
is | mentioned by |
dbSNP | rs112661131 |
dbSNP (classic) | rs112661131 |
ClinGen | rs112661131 |
ebi | rs112661131 |
HLI | rs112661131 |
Exac | rs112661131 |
Gnomad | rs112661131 |
Varsome | rs112661131 |
LitVar | rs112661131 |
Map | rs112661131 |
PheGenI | rs112661131 |
Biobank | rs112661131 |
1000 genomes | rs112661131 |
hgdp | rs112661131 |
ensembl | rs112661131 |
geneview | rs112661131 |
scholar | rs112661131 |
rs112661131 | |
pharmgkb | rs112661131 |
gwascentral | rs112661131 |
openSNP | rs112661131 |
23andMe | rs112661131 |
SNPshot | rs112661131 |
SNPdbe | rs112661131 |
MSV3d | rs112661131 |
GWAS Ctlg | rs112661131 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs112661131(G;G) |
Alt | rs112661131(G;G) |
Reference | Rs112661131(A;A) |
Significance | Probable-Pathogenic |
Disease | Alpha-1-antitrypsin deficiency |
Variation | info |
Gene | SERPINA1 |
CLNDBN | Alpha-1-antitrypsin deficiency |
Reversed | 0 |
HGVS | NC_000014.8:g.94848927A>G |
CLNSRC | |
CLNACC | RCV000411387.1, |