rs63751615
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 5 | Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2) |
| (T;T) | 6 | Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 37012098 |
| Gene | MLH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63751615 |
| dbSNP (classic) | rs63751615 |
| ClinGen | rs63751615 |
| ebi | rs63751615 |
| HLI | rs63751615 |
| Exac | rs63751615 |
| Gnomad | rs63751615 |
| Varsome | rs63751615 |
| LitVar | rs63751615 |
| Map | rs63751615 |
| PheGenI | rs63751615 |
| Biobank | rs63751615 |
| 1000 genomes | rs63751615 |
| hgdp | rs63751615 |
| ensembl | rs63751615 |
| geneview | rs63751615 |
| scholar | rs63751615 |
| rs63751615 | |
| pharmgkb | rs63751615 |
| gwascentral | rs63751615 |
| openSNP | rs63751615 |
| 23andMe | rs63751615 |
| SNPshot | rs63751615 |
| SNPdbe | rs63751615 |
| MSV3d | rs63751615 |
| GWAS Ctlg | rs63751615 |
| Merged from | Rs121912958 |
| Max Magnitude | 6 |
rs63751615 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC).[PMID 9927033]
This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249
]
See also OMIM 120436.0010
| ClinVar | |
|---|---|
| Risk | Rs63751615(T;T) |
| Alt | Rs63751615(T;T) |
| Reference | Rs63751615(C;C) |
| Significance | Pathogenic |
| Disease | Lynch syndrome II Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | MLH1 |
| CLNDBN | Lynch syndrome II Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.37053589C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018616.28, RCV000018617.28, RCV000075801.2, RCV000115485.5, RCV000202205.2, |
