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rs2229992

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs2229992(C;C)
Make rs2229992(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position112827157
GeneAPC
is asnp
is mentioned by
dbSNPrs2229992
ebirs2229992
HLIrs2229992
Exacrs2229992
Varsomers2229992
Maprs2229992
PheGenIrs2229992
hapmaprs2229992
1000 genomesrs2229992
hgdprs2229992
ensemblrs2229992
gopubmedrs2229992
geneviewrs2229992
scholarrs2229992
googlers2229992
pharmgkbrs2229992
gwascentralrs2229992
openSNPrs2229992
23andMers2229992
23andMe allrs2229992
SNP Nexus

SNPshotrs2229992
SNPdbers2229992
MSV3drs2229992
GWAS Ctlgrs2229992
GMAF0.4674
Max Magnitude0
? (C;C) (C;T) (T;T) 28

[PMID 21279955] Association of APC and MCC polymorphisms with increased breast cancer risk in an Indian population

OMIM114500
Desc
Variant
Relatedalso


ClinVar
Risk rs2229992(C;C)
Alt rs2229992(C;C)
Reference rs2229992(T;T)
Significance Other
Disease not specified Familial colorectal cancer Hereditary cancer-predisposing syndrome
Variation info
Gene APC
CLNDBN not specified Familial colorectal cancer Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000005.9:g.112162854T>C
CLNSRC Ambry Genetics ClinVar Emory University
CLNACC RCV000035064.7, RCV000074147.1, RCV000131423.2,



[PMID 15768050] The tumor suppressor adenomatous polyposis coli gene is associated with susceptibility to schizophrenia.


[PMID 16569251OA-icon.png] Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.


[PMID 17221838] Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD).


[PMID 17267408OA-icon.png] Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.


[PMID 18708403OA-icon.png] Association of genetic variation in genes implicated in the beta-catenin destruction complex with risk of breast cancer.


[PMID 18849522OA-icon.png] Nested Patch PCR enables highly multiplexed mutation discovery in candidate genes.


[PMID 20333795OA-icon.png] APC gene mutations in Chinese familial adenomatous polyposis patients.