rs764220898
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 3 | Carrier for an Alpha-1 Antitrypsin Deficiency variant |
Make rs764220898(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 94381043 |
Gene | SERPINA1 |
is a | snp |
is | mentioned by |
dbSNP | rs764220898 |
dbSNP (classic) | rs764220898 |
ClinGen | rs764220898 |
ebi | rs764220898 |
HLI | rs764220898 |
Exac | rs764220898 |
Gnomad | rs764220898 |
Varsome | rs764220898 |
LitVar | rs764220898 |
Map | rs764220898 |
PheGenI | rs764220898 |
Biobank | rs764220898 |
1000 genomes | rs764220898 |
hgdp | rs764220898 |
ensembl | rs764220898 |
geneview | rs764220898 |
scholar | rs764220898 |
rs764220898 | |
pharmgkb | rs764220898 |
gwascentral | rs764220898 |
openSNP | rs764220898 |
23andMe | rs764220898 |
SNPshot | rs764220898 |
SNPdbe | rs764220898 |
MSV3d | rs764220898 |
GWAS Ctlg | rs764220898 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs764220898(G;G) |
Alt | rs764220898(G;G) |
Reference | Rs764220898(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.94847380C>G |
CLNSRC | |
CLNACC | RCV000169405.1, |