rs774454456
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (GAGA;GAGA) | 0 | common in clinvar |
| Make rs774454456(-;-) |
| Make rs774454456(-;GAGA) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 12 |
| Position | 12717808 |
| Gene | CDKN1B, GPR19 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs774454456 |
| dbSNP (classic) | rs774454456 |
| ClinGen | rs774454456 |
| ebi | rs774454456 |
| HLI | rs774454456 |
| Exac | rs774454456 |
| Gnomad | rs774454456 |
| Varsome | rs774454456 |
| LitVar | rs774454456 |
| Map | rs774454456 |
| PheGenI | rs774454456 |
| Biobank | rs774454456 |
| 1000 genomes | rs774454456 |
| hgdp | rs774454456 |
| ensembl | rs774454456 |
| geneview | rs774454456 |
| scholar | rs774454456 |
| rs774454456 | |
| pharmgkb | rs774454456 |
| gwascentral | rs774454456 |
| openSNP | rs774454456 |
| 23andMe | rs774454456 |
| SNPshot | rs774454456 |
| SNPdbe | rs774454456 |
| MSV3d | rs774454456 |
| GWAS Ctlg | rs774454456 |
| Merged from | Rs869312166 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs774454456(-;-) rs774454456(AGAG;AGAG) |
| Alt | rs774454456(-;-) rs774454456(AGAG;AGAG) |
| Reference | Rs774454456(GAGA;GAGA) |
| Significance | Pathogenic |
| Disease | Multiple endocrine neoplasia Primary hyperparathyroidism Multiple endocrine neoplasia |
| Variation | info |
| Gene | LOC101929220 CDKN1B |
| CLNDBN | Multiple endocrine neoplasia, type 4 Primary hyperparathyroidism Multiple endocrine neoplasia |
| Reversed | 0 |
| HGVS | NC_000012.11:g.12870745_12870748delAGAG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000162206.3, RCV000210358.1, RCV000354456.1, |
