rs28931612
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | |
| (G;G) | 0 | common in complete genomics |
| Make rs28931612(A;A) |
| Make rs28931612(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 64810034 |
| Gene | MEN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28931612 |
| dbSNP (classic) | rs28931612 |
| ClinGen | rs28931612 |
| ebi | rs28931612 |
| HLI | rs28931612 |
| Exac | rs28931612 |
| Gnomad | rs28931612 |
| Varsome | rs28931612 |
| LitVar | rs28931612 |
| Map | rs28931612 |
| PheGenI | rs28931612 |
| Biobank | rs28931612 |
| 1000 genomes | rs28931612 |
| hgdp | rs28931612 |
| ensembl | rs28931612 |
| geneview | rs28931612 |
| scholar | rs28931612 |
| rs28931612 | |
| pharmgkb | rs28931612 |
| gwascentral | rs28931612 |
| openSNP | rs28931612 |
| 23andMe | rs28931612 |
| SNPshot | rs28931612 |
| SNPdbe | rs28931612 |
| MSV3d | rs28931612 |
| GWAS Ctlg | rs28931612 |
| Max Magnitude | 0 |
NOTE: the OMIM entry cited below refers to a somatic mutation, not a germline SNP
| ClinVar | |
|---|---|
| Risk | rs28931612(A;A) rs28931612(T;T) |
| Alt | rs28931612(A;A) rs28931612(T;T) |
| Reference | Rs28931612(G;G) |
| Significance | Pathogenic |
| Disease | Parathyroid adenoma not provided |
| Variation | info |
| Gene | MEN1 |
| CLNDBN | Parathyroid adenoma, somatic not provided |
| Reversed | 1 |
| HGVS | NC_000011.9:g.64577506C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018169.5, RCV000490040.1, |
