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rs1047972

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0
Make rs1047972(A;A)
Make rs1047972(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position56386407
GeneAURKA
is asnp
is mentioned by
dbSNPrs1047972
ebirs1047972
HLIrs1047972
Exacrs1047972
Varsomers1047972
Maprs1047972
PheGenIrs1047972
hapmaprs1047972
1000 genomesrs1047972
hgdprs1047972
ensemblrs1047972
gopubmedrs1047972
geneviewrs1047972
scholarrs1047972
googlers1047972
pharmgkbrs1047972
gwascentralrs1047972
openSNPrs1047972
23andMers1047972
23andMe allrs1047972
SNP Nexus

SNPshotrs1047972
SNPdbers1047972
MSV3drs1047972
GWAS Ctlgrs1047972
GMAF0.1561
Max Magnitude0
? (A;A) (A;G) (G;G) 28
influences mitosis

associated with cancer

Neighborrs2273535
Distance78


Venter snp
Source plos
Gene AURKA
allele C
frequency 0.808
sift TOLERATED
HuRef 1103643228170
Disease Association Defects in STK6 are responsible for numerical centrosome aberrations including aneuploidy.



[PMID 21050672] Genetic variants of NPAT-ATM and AURKA are associated with an early adverse reaction in the gastrointestinal tract of patients with cervical cancer treated with pelvic radiation therapy


[PMID 16465622OA-icon.png] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.


[PMID 18854777OA-icon.png] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.


GET Evidence
AURKA-I57V
aa_change Ile57Val
aa_change_short I57V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.836401
summary



[PMID 25253995OA-icon.png] Association between genetic polymorphisms in AURKA (rs2273535 and rs1047972) and breast cancer risk: a meta-analysis involving 37,221 subjects


[PMID 26925658] Association of CYP2E1, STK15 and XRCC1 Polymorphisms with Risk of Breast Cancer in Malaysian Women.


[PMID 27270838] Association of the AURKA and AURKC gene polymorphisms with an increased risk of gastric cancer.