rs773601814
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs773601814(A;G) |
Make rs773601814(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 53309018 |
Gene | AAAS |
is a | snp |
is | mentioned by |
dbSNP | rs773601814 |
dbSNP (classic) | rs773601814 |
ClinGen | rs773601814 |
ebi | rs773601814 |
HLI | rs773601814 |
Exac | rs773601814 |
Gnomad | rs773601814 |
Varsome | rs773601814 |
LitVar | rs773601814 |
Map | rs773601814 |
PheGenI | rs773601814 |
Biobank | rs773601814 |
1000 genomes | rs773601814 |
hgdp | rs773601814 |
ensembl | rs773601814 |
geneview | rs773601814 |
scholar | rs773601814 |
rs773601814 | |
pharmgkb | rs773601814 |
gwascentral | rs773601814 |
openSNP | rs773601814 |
23andMe | rs773601814 |
SNPshot | rs773601814 |
SNPdbe | rs773601814 |
MSV3d | rs773601814 |
GWAS Ctlg | rs773601814 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs773601814(G;G) |
Alt | rs773601814(G;G) |
Reference | Rs773601814(A;A) |
Significance | Pathogenic |
Disease | Glucocorticoid deficiency with achalasia |
Variation | info |
Gene | AAAS |
CLNDBN | Glucocorticoid deficiency with achalasia |
Reversed | 0 |
HGVS | NC_000012.11:g.53702802A>G |
CLNSRC | |
CLNACC | RCV000184015.2, |