rs12721510
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | Risk for ACTH deficiency | |
| (C;C) | 0 | common in clinvar |
| Make rs12721510(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 66178947 |
| Gene | CRH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12721510 |
| dbSNP (classic) | rs12721510 |
| ClinGen | rs12721510 |
| ebi | rs12721510 |
| HLI | rs12721510 |
| Exac | rs12721510 |
| Gnomad | rs12721510 |
| Varsome | rs12721510 |
| LitVar | rs12721510 |
| Map | rs12721510 |
| PheGenI | rs12721510 |
| Biobank | rs12721510 |
| 1000 genomes | rs12721510 |
| hgdp | rs12721510 |
| ensembl | rs12721510 |
| geneview | rs12721510 |
| scholar | rs12721510 |
| rs12721510 | |
| pharmgkb | rs12721510 |
| gwascentral | rs12721510 |
| openSNP | rs12721510 |
| 23andMe | rs12721510 |
| SNPshot | rs12721510 |
| SNPdbe | rs12721510 |
| MSV3d | rs12721510 |
| GWAS Ctlg | rs12721510 |
| GMAF | 0.0202 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs12721510(A;A) |
| Alt | Rs12721510(A;A) |
| Reference | Rs12721510(C;C) |
| Significance | Pathogenic |
| Disease | ACTH deficiency |
| Variation | info |
| Gene | CRH |
| CLNDBN | ACTH deficiency |
| Reversed | 1 |
| HGVS | NC_000008.11:g.66178947G>T |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000033935.2, |
[PMID 18678798
] CRH haplotype as a factor influencing cerebrospinal fluid levels of corticotropin-releasing hormone, hypothalamic-pituitary-adrenal axis activity, temperament, and alcohol consumption in rhesus macaques.
