Have questions? Visit https://www.reddit.com/r/SNPedia

rs3219489

From SNPedia

Orientationminus
Stabilizedminus
Make rs3219489(C;C)
Make rs3219489(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position45331833
GeneMUTYH
is asnp
is mentioned by
dbSNPrs3219489
ebirs3219489
HLIrs3219489
Exacrs3219489
Varsomers3219489
Maprs3219489
PheGenIrs3219489
hapmaprs3219489
1000 genomesrs3219489
hgdprs3219489
ensemblrs3219489
gopubmedrs3219489
geneviewrs3219489
scholarrs3219489
googlers3219489
pharmgkbrs3219489
gwascentralrs3219489
openSNPrs3219489
23andMers3219489
23andMe allrs3219489
SNP Nexus

SNPshotrs3219489
SNPdbers3219489
MSV3drs3219489
GWAS Ctlgrs3219489
GMAF0.3186
Max Magnitude
? (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 16465622OA-icon.png] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.

[PMID 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.

[PMID 18823566OA-icon.png] Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population.

[PMID 19443904OA-icon.png] Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma.

[PMID 19536092OA-icon.png] Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.

[PMID 19781088OA-icon.png] 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 22720119OA-icon.png] Association of base excision repair gene polymorphisms with ESRD risk in a Chinese population

GET Evidence
MUTYH-Q311H
aa_change Gln311His
aa_change_short Q311H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.252929
summary



[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
Variation info
Gene MUTYH
CLNDBN not provided not specified Hereditary cancer-predisposing syndrome Carcinoma of colon
Reversed 1
HGVS NC_000001.10:g.45797505C>G
CLNSRC HGMD
CLNACC RCV000034684.1, RCV000079500.5, RCV000131427.2, RCV000144634.1,



[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