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rs2240308

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
Make rs2240308(A;G)
Make rs2240308(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position65558473
GeneAXIN2, LOC102724272
is asnp
is mentioned by
dbSNPrs2240308
ebirs2240308
HLIrs2240308
Exacrs2240308
Varsomers2240308
Maprs2240308
PheGenIrs2240308
hapmaprs2240308
1000 genomesrs2240308
hgdprs2240308
ensemblrs2240308
gopubmedrs2240308
geneviewrs2240308
scholarrs2240308
googlers2240308
pharmgkbrs2240308
gwascentralrs2240308
openSNPrs2240308
23andMers2240308
23andMe allrs2240308
SNP Nexus

SNPshotrs2240308
SNPdbers2240308
MSV3drs2240308
GWAS Ctlgrs2240308
GMAF0.348
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene AXIN2
allele A
frequency 0.525
sift TOLERATED
HuRef 1103645362995
Disease Association Defects in AXIN2 are the cause of oligodontia-colorectal cancer syndrome (MIM:608615). Affected individuals manifest severe tooth agenesis and colorectal cancer or precancerous lesions of variable types.



[PMID 19065536] [Association of single nucleotide polymorphisms of Axis inhibitor-2 gene rs224030, rs8081536, rs9913621 with Hirschsprung disease]


[PMID 21069480] AXIN2 polymorphism and its association with prostate cancer in a Turkish population

[PMID 18683894OA-icon.png] AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts.

[PMID 18790474OA-icon.png] Axis inhibition protein 2 (AXIN2) polymorphisms and tooth agenesis.


GET Evidence
AXIN2-P50S
aa_change Pro50Ser
aa_change_short P50S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.389478
summary



[PMID 24078348OA-icon.png] An Analysis of Polymorphisms Within the Wnt Signaling Pathway in Relation to Ovarian Cancer Risk in a Polish Population


[PMID 25013500OA-icon.png] Significant association between the Axin2 rs2240308 single nucleotide polymorphism and the incidence of prostate cancer


[PMID 25091576] The Axin2 rs2240308 polymorphism and susceptibility to lung cancer in a Chinese population


[PMID 24484320] The axis inhibition protein 2 polymorphisms and non-syndromic orofacial clefts susceptibility in a Chinese Han population