rs3219489
| Orientation | minus |
| Stabilized | minus |
| Make rs3219489(C;C) |
| Make rs3219489(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 45331833 |
| Gene | MUTYH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3219489 |
| dbSNP (classic) | rs3219489 |
| ClinGen | rs3219489 |
| ebi | rs3219489 |
| HLI | rs3219489 |
| Exac | rs3219489 |
| Gnomad | rs3219489 |
| Varsome | rs3219489 |
| LitVar | rs3219489 |
| Map | rs3219489 |
| PheGenI | rs3219489 |
| Biobank | rs3219489 |
| 1000 genomes | rs3219489 |
| hgdp | rs3219489 |
| ensembl | rs3219489 |
| geneview | rs3219489 |
| scholar | rs3219489 |
| rs3219489 | |
| pharmgkb | rs3219489 |
| gwascentral | rs3219489 |
| openSNP | rs3219489 |
| 23andMe | rs3219489 |
| SNPshot | rs3219489 |
| SNPdbe | rs3219489 |
| MSV3d | rs3219489 |
| GWAS Ctlg | rs3219489 |
| GMAF | 0.3186 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20149637] Common variants in human CRC genes as low-risk alleles
[PMID 22641385] Alterations of the base excision repair gene MUTYH in sporadic colorectal cancer
[PMID 16465622
] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 18823566] Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population.
[PMID 19443904] Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma.
[PMID 19536092] Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.
[PMID 19781088] Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study.
[PMID 21195504] Association of genetic polymorphisms in DNA repair pathway genes with non-small cell lung cancer risk.
[PMID 22469746] Association between polymorphisms of the DNA base excision repair genes MUTYH and hOGG1 and age-related macular degeneration.
[PMID 22720119] Association of base excision repair gene polymorphisms with ESRD risk in a Chinese population
[PMID 22466227] Genotoxic effects of occupational exposure to lead and influence of polymorphisms in genes involved in lead toxicokinetics and in DNA repair.
| ClinVar | |
|---|---|
| Risk | rs3219489(C;C) |
| Alt | rs3219489(C;C) |
| Reference | Rs3219489(G;G) |
| Significance | Non-pathogenic |
| Disease | not provided not specified Hereditary cancer-predisposing syndrome Carcinoma of colon MYH-associated polyposis |
| Variation | info |
| Gene | MUTYH |
| CLNDBN | not provided not specified Hereditary cancer-predisposing syndrome Carcinoma of colon MYH-associated polyposis |
| Reversed | 1 |
| HGVS | NC_000001.10:g.45797505C>G |
| CLNSRC | HGMD |
| CLNACC | RCV000034684.1, RCV000079500.6, RCV000131427.4, RCV000144634.1, RCV000299432.1, |
[PMID 25998844] Variants of Base Excision Repair Genes MUTYH , PARP1 and XRCC1 in Alzheimer's Disease Risk
[PMID 26074017] Association between single nucleotide polymorphisms of MUTYH, hOGG1 and NEIL1 genes, and depression
[PMID 26159902] DNA Repair Gene Polymorphisms in Relation to Non-Small Cell Lung Cancer Survival
