rs63750393
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;GA) | 6 | Lynch syndrome, pathogenic mutation |
| (AG;AG) | 0 | common in clinvar |
| (GA;GA) | 0 | common in clinvar |
| Make rs63750393(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 47471008 |
| Gene | MSH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750393 |
| dbSNP (classic) | rs63750393 |
| ClinGen | rs63750393 |
| ebi | rs63750393 |
| HLI | rs63750393 |
| Exac | rs63750393 |
| Gnomad | rs63750393 |
| Varsome | rs63750393 |
| LitVar | rs63750393 |
| Map | rs63750393 |
| PheGenI | rs63750393 |
| Biobank | rs63750393 |
| 1000 genomes | rs63750393 |
| hgdp | rs63750393 |
| ensembl | rs63750393 |
| geneview | rs63750393 |
| scholar | rs63750393 |
| rs63750393 | |
| pharmgkb | rs63750393 |
| gwascentral | rs63750393 |
| openSNP | rs63750393 |
| 23andMe | rs63750393 |
| SNPshot | rs63750393 |
| SNPdbe | rs63750393 |
| MSV3d | rs63750393 |
| GWAS Ctlg | rs63750393 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs63750393(-;-) Rs63750393(AG;AG) |
| Alt | rs63750393(-;-) Rs63750393(AG;AG) |
| Reference | Rs63750393(GA;GA) |
| Significance | Pathogenic |
| Disease | Lynch syndrome not provided Lynch syndrome I Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | MSH2 |
| CLNDBN | Lynch syndrome not provided Lynch syndrome I Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.47698147_47698148delGA |
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
| CLNACC | RCV000030243.3, RCV000115505.3, RCV000409229.1, RCV000491995.1, |
[PMID 20007] [A case of acute ischemia of the extremities in disseminated intravascular coagulation in an infant].
[PMID 11920650] Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain.
[PMID 12362047
] Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.
[PMID 12414824] Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation.
[PMID 19698169] Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.
[PMID 19706203] Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum.
