rs63750899
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) | 4 | Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 37048562 |
| Gene | MLH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750899 |
| dbSNP (classic) | rs63750899 |
| ClinGen | rs63750899 |
| ebi | rs63750899 |
| HLI | rs63750899 |
| Exac | rs63750899 |
| Gnomad | rs63750899 |
| Varsome | rs63750899 |
| LitVar | rs63750899 |
| Map | rs63750899 |
| PheGenI | rs63750899 |
| Biobank | rs63750899 |
| 1000 genomes | rs63750899 |
| hgdp | rs63750899 |
| ensembl | rs63750899 |
| geneview | rs63750899 |
| scholar | rs63750899 |
| rs63750899 | |
| pharmgkb | rs63750899 |
| gwascentral | rs63750899 |
| openSNP | rs63750899 |
| 23andMe | rs63750899 |
| SNPshot | rs63750899 |
| SNPdbe | rs63750899 |
| MSV3d | rs63750899 |
| GWAS Ctlg | rs63750899 |
| Max Magnitude | 5 |
rs63750899 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC).[PMID 15139004]
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 120436.0020
| ClinVar | |
|---|---|
| Risk | Rs63750899(T;T) |
| Alt | Rs63750899(T;T) |
| Reference | Rs63750899(C;C) |
| Significance | Pathogenic |
| Disease | Lynch syndrome II Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | MLH1 |
| CLNDBN | Lynch syndrome II Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000003.11:g.37090053C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018629.24, RCV000018630.28, RCV000075432.2, RCV000162472.2, |
