rs121912962
From SNPedia
| Merged into | rs63751247 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AAG;AAG) | 0 | common in clinvar |
| (GAA;GAA) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
| Make rs121912962(-;-) |
| Make rs121912962(-;AAG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 37047633 |
| Gene | MLH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912962 |
| dbSNP (classic) | rs121912962 |
| ClinGen | rs121912962 |
| ebi | rs121912962 |
| HLI | rs121912962 |
| Exac | rs121912962 |
| Gnomad | rs121912962 |
| Varsome | rs121912962 |
| LitVar | rs121912962 |
| Map | rs121912962 |
| PheGenI | rs121912962 |
| Biobank | rs121912962 |
| 1000 genomes | rs121912962 |
| hgdp | rs121912962 |
| ensembl | rs121912962 |
| geneview | rs121912962 |
| scholar | rs121912962 |
| rs121912962 | |
| pharmgkb | rs121912962 |
| gwascentral | rs121912962 |
| openSNP | rs121912962 |
| 23andMe | rs121912962 |
| SNPshot | rs121912962 |
| SNPdbe | rs121912962 |
| MSV3d | rs121912962 |
| GWAS Ctlg | rs121912962 |
| Status | Merged into rs63751247 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs121912962(GAA;GAA) |
| Significance | Pathogenic |
| Disease | Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome II not provided |
| Variation | info |
| Gene | MLH1 |
| CLNDBN | Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome II not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.37089130_37089132delAAG |
| CLNSRC | Children's Hospital of Eastern Ontario International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant |
| CLNACC | RCV000018609.27, RCV000075383.4, RCV000129328.4, RCV000192399.2, RCV000202279.2, |
