Rs2227928

From SNPedia
Jump to: navigation, search

Orientationminus
Geno Mag Summary
(C;C) poorer response to pancreatic cancer combined treatment
(C;T) poorer response to pancreatic cancer combined treatment
(T;T) normal
ReferenceGRCh38 38.1/141
Chromosome3
Position142562770
GeneATR
is asnp
is mentioned by
dbSNPrs2227928
Exacrs2227928
PheGenIrs2227928
nextbiors2227928
hapmaprs2227928
1000 genomesrs2227928
hgdprs2227928
ensemblrs2227928
gopubmedrs2227928
geneviewrs2227928
scholarrs2227928
googlers2227928
pharmgkbrs2227928
gwascentralrs2227928
openSNPrs2227928
23andMers2227928
23andMe allrs2227928
SNP Nexus

SNPshotrs2227928
SNPdbers2227928
MSV3drs2227928
GMAF0.3825
Max Magnitude
? (C;C) (C;T) (T;T) 28
rs2227928, also known as Ex4+340C>T or T211M, is a SNP in the ATR gene.

Although not significant on it's own, as 1 of 3 SNPs its risk allele (rs2227928(C)) is associated with poorer overall survival for pancreatic cancer patients being treated with combined gerncitabine radiation therapy. Median overall survival times of 31.0, 16.2, and 10.5 months were calculated for pancreatic cancer patients carrying < or = 1, 2, and 3 risk alleles from rs664143(C), rs2227928(C), and rs521102(T;T), respectively (P=0.004). [PMID 18381943OA-icon.png]


Venter snp
Source plos
Gene ATR
allele G
frequency 0.583
sift
HuRef 1103656248638
Disease Association Defects in ATR are a cause of Seckel syndrome 1 (SCKL1) (MIM:210600). SCKL1 is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance.



[PMID 17010193OA-icon.png] Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.


[PMID 18191955OA-icon.png] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.


[PMID 18551366OA-icon.png] Genetic variation in DNA repair pathway genes and premenopausal breast cancer risk.


GET Evidence
ATR-M211T
aa_change Met211Thr
aa_change_short M211T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.664343
summary