rs2303428
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs2303428(C;C) |
| Make rs2303428(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 47476361 |
| Gene | MSH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2303428 |
| dbSNP (classic) | rs2303428 |
| ClinGen | rs2303428 |
| ebi | rs2303428 |
| HLI | rs2303428 |
| Exac | rs2303428 |
| Gnomad | rs2303428 |
| Varsome | rs2303428 |
| LitVar | rs2303428 |
| Map | rs2303428 |
| PheGenI | rs2303428 |
| Biobank | rs2303428 |
| 1000 genomes | rs2303428 |
| hgdp | rs2303428 |
| ensembl | rs2303428 |
| geneview | rs2303428 |
| scholar | rs2303428 |
| rs2303428 | |
| pharmgkb | rs2303428 |
| gwascentral | rs2303428 |
| openSNP | rs2303428 |
| 23andMe | rs2303428 |
| SNPshot | rs2303428 |
| SNPdbe | rs2303428 |
| MSV3d | rs2303428 |
| GWAS Ctlg | rs2303428 |
| GMAF | 0.1286 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19741564] Effect of DNA repair host factors on temozolomide or dacarbazine melanoma treatment in Caucasians
| ClinVar | |
|---|---|
| Risk | rs2303428(A;A) rs2303428(C;C) rs2303428(G;G) |
| Alt | rs2303428(A;A) rs2303428(C;C) rs2303428(G;G) |
| Reference | Rs2303428(T;T) |
| Significance | Non-pathogenic |
| Disease | Lynch syndrome not specified Lynch syndrome I Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | MSH2 |
| CLNDBN | Lynch syndrome not specified Lynch syndrome I Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.47703500T>C; NC_000002.11:g.47703500T>G |
| CLNSRC | HGMD |
| CLNACC | RCV000030247.4, RCV000035359.9, RCV000144621.1, RCV000448700.1, RCV000076352.2, |
[PMID 16985024] Endometrial cancer risk is associated with variants of the mismatch repair genes MLH1 and MSH2.
[PMID 19930554
] Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.
[PMID 20386703] Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer.
[PMID 10978353] Recurrent germline mutation in MSH2 arises frequently de novo.
[PMID 17374836] MLH1 -93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer.
[PMID 18325052] Implications of mismatch repair genes hMLH1 and hMSH2 in patients with sporadic renal cell carcinoma.
[PMID 29874113] Rs2303428 of MSH2 Is Associated with Hepatocellular Carcinoma Prognosis in a Chinese Population.
