rs764325655
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;G) | 3 | Carrier for an Alpha-1 Antitrypsin Deficiency variant |
(D;D) | 0 | common genotype |
Make rs764325655(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 94378547 |
Gene | SERPINA1 |
is a | snp |
is | mentioned by |
dbSNP | rs764325655 |
dbSNP (classic) | rs764325655 |
ClinGen | rs764325655 |
ebi | rs764325655 |
HLI | rs764325655 |
Exac | rs764325655 |
Gnomad | rs764325655 |
Varsome | rs764325655 |
LitVar | rs764325655 |
Map | rs764325655 |
PheGenI | rs764325655 |
Biobank | rs764325655 |
1000 genomes | rs764325655 |
hgdp | rs764325655 |
ensembl | rs764325655 |
geneview | rs764325655 |
scholar | rs764325655 |
rs764325655 | |
pharmgkb | rs764325655 |
gwascentral | rs764325655 |
openSNP | rs764325655 |
23andMe | rs764325655 |
SNPshot | rs764325655 |
SNPdbe | rs764325655 |
MSV3d | rs764325655 |
GWAS Ctlg | rs764325655 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs764325655(G;G) |
Alt | rs764325655(G;G) |
Reference | Rs764325655(-;-) |
Significance | Probable-Pathogenic |
Disease | Alpha-1-antitrypsin deficiency |
Variation | info |
Gene | SERPINA1 |
CLNDBN | Alpha-1-antitrypsin deficiency |
Reversed | 0 |
HGVS | NC_000014.8:g.94844885dupG |
CLNSRC | |
CLNACC | RCV000169195.1, |