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rs1346044

From SNPedia

Orientationplus
Stabilizedplus
Make rs1346044(C;C)
Make rs1346044(C;T)
Make rs1346044(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position31167138
GeneWRN
is asnp
is mentioned by
dbSNPrs1346044
ebirs1346044
HLIrs1346044
Exacrs1346044
Varsomers1346044
Maprs1346044
PheGenIrs1346044
hapmaprs1346044
1000 genomesrs1346044
hgdprs1346044
ensemblrs1346044
gopubmedrs1346044
geneviewrs1346044
scholarrs1346044
googlers1346044
pharmgkbrs1346044
gwascentralrs1346044
openSNPrs1346044
23andMers1346044
23andMe allrs1346044
SNP Nexus

SNPshotrs1346044
SNPdbers1346044
MSV3drs1346044
GWAS Ctlgrs1346044
GMAF0.1827
Max Magnitude
? (C;C) (C;T) (T;T) 28

[PMID 19282863] Association of candidate gene polymorphisms with chronic kidney disease in Japanese individuals with hypertension


[PMID 19945966] Colorectal cancer and polymorphisms in DNA repair genes WRN, RMI1 and BLM


[PMID 16857995OA-icon.png] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.


[PMID 18194558OA-icon.png] A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.


[PMID 18978339OA-icon.png] Large-scale evaluation of candidate genes identifies associations between DNA repair and genomic maintenance and development of benzene hematotoxicity.


GET Evidence
WRN-C1367R
aa_change Cys1367Arg
aa_change_short C1367R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.229318
summary



[PMID 23334603OA-icon.png] Polymorphisms of the WRN gene and DNA damage of peripheral lymphocytes in age-related cataract in a Han Chinese population.


[PMID 24944800OA-icon.png] WRN Cys1367Arg polymorphism is not associated with skull base chordoma


ClinVar
Risk rs1346044(C;C)
Alt rs1346044(C;C)
Reference rs1346044(T;T)
Significance Other
Disease not specified
Variation info
Gene WRN
CLNDBN not specified
Reversed 0
HGVS NC_000008.10:g.31024654T>C
CLNSRC ClinVar University of Chicago
CLNACC RCV000118880.4,



[PMID 26690424] Association of the rs1346044 Polymorphism of the Werner Syndrome Gene RECQL2 with Increased Risk and Premature Onset of Breast Cancer.