rs121918547
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121918547(C;T) |
Make rs121918547(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 53309158 |
Gene | AAAS |
is a | snp |
is | mentioned by |
dbSNP | rs121918547 |
dbSNP (classic) | rs121918547 |
ClinGen | rs121918547 |
ebi | rs121918547 |
HLI | rs121918547 |
Exac | rs121918547 |
Gnomad | rs121918547 |
Varsome | rs121918547 |
LitVar | rs121918547 |
Map | rs121918547 |
PheGenI | rs121918547 |
Biobank | rs121918547 |
1000 genomes | rs121918547 |
hgdp | rs121918547 |
ensembl | rs121918547 |
geneview | rs121918547 |
scholar | rs121918547 |
rs121918547 | |
pharmgkb | rs121918547 |
gwascentral | rs121918547 |
openSNP | rs121918547 |
23andMe | rs121918547 |
SNPshot | rs121918547 |
SNPdbe | rs121918547 |
MSV3d | rs121918547 |
GWAS Ctlg | rs121918547 |
GMAF | 0.001377 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918547(G;G) rs121918547(T;T) |
Alt | rs121918547(G;G) rs121918547(T;T) |
Reference | Rs121918547(C;C) |
Significance | Pathogenic |
Disease | Glucocorticoid deficiency with achalasia |
Variation | info |
Gene | AAAS |
CLNDBN | Glucocorticoid deficiency with achalasia |
Reversed | 1 |
HGVS | NC_000012.11:g.53702942G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005342.3, |