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rs2227928

From SNPedia

Orientationminus
Stabilizedminus
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
dbSNP (classic)rs2227928
ClinGenrs2227928
ebirs2227928
HLIrs2227928
Exacrs2227928
Gnomadrs2227928
Varsomers2227928
LitVarrs2227928
Maprs2227928
PheGenIrs2227928
Biobankrs2227928
1000 genomesrs2227928
hgdprs2227928
ensemblrs2227928
geneviewrs2227928
scholarrs2227928
googlers2227928
pharmgkbrs2227928
gwascentralrs2227928
openSNPrs2227928
23andMers2227928
SNPshotrs2227928
SNPdbers2227928
MSV3drs2227928
GWAS Ctlgrs2227928
GMAF0.3825
Max Magnitude0
? (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]



[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.



ClinVar
Risk Rs2227928(C;C)
Alt Rs2227928(C;C)
Reference Rs2227928(T;T)
Significance Other
Disease not specified Seckel syndrome
Variation info
Gene ATR
CLNDBN not specified Seckel syndrome
Reversed 1
HGVS NC_000003.11:g.142281612A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000079600.6, RCV000267092.1,