rs397515394
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
({{{allele1}}};{{{allele2}}}) | 0 | common in clinvar |
Make rs397515394(-;CTG) |
Make rs397515394(CTG;CTG) |
Reference | GRCh38 38.1/142 |
Chromosome | 6 |
Position | 32038449 |
Gene | CYP21A2 |
is a | snp |
is | mentioned by |
dbSNP | rs397515394 |
dbSNP (classic) | rs397515394 |
ClinGen | rs397515394 |
ebi | rs397515394 |
HLI | rs397515394 |
Exac | rs397515394 |
Gnomad | rs397515394 |
Varsome | rs397515394 |
LitVar | rs397515394 |
Map | rs397515394 |
PheGenI | rs397515394 |
Biobank | rs397515394 |
1000 genomes | rs397515394 |
hgdp | rs397515394 |
ensembl | rs397515394 |
geneview | rs397515394 |
scholar | rs397515394 |
rs397515394 | |
pharmgkb | rs397515394 |
gwascentral | rs397515394 |
openSNP | rs397515394 |
23andMe | rs397515394 |
SNPshot | rs397515394 |
SNPdbe | rs397515394 |
MSV3d | rs397515394 |
GWAS Ctlg | rs397515394 |
Max Magnitude | 0 |
[PMID 25249698] CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles
ClinVar | |
---|---|
Risk | rs397515394(CTG;CTG) |
Alt | rs397515394(CTG;CTG) |
Reference | Rs397515394(-;-) |
Significance | Non-pathogenic |
Disease | 21-HYDROXYLASE POLYMORPHISM 21-hydroxylase deficiency |
Variation | info |
Gene | CYP21A2 |
CLNDBN | 21-HYDROXYLASE POLYMORPHISM 21-hydroxylase deficiency |
Reversed | 0 |
HGVS | NC_000006.11:g.32006227_32006229dupCTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024070.2, RCV000055814.1, |