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SNP rs1799977
Basic Information
Name
rs1799977
Chromosome
3
Position
37012077
Weight of evidence
58
Genotype Frequency
AG
GG
AA
00
41%
9%
49%
Allele Frequency
A
T
G
C
0
71%
29%
Additional Information
SNPedia (1)
PLoS (11)
Mendeley (31)
Personal Genome Project (0)
Genome.gov (0)
Other users (1714)
Comments (0)
Links to SNPedia
Title
Summary
rs1799977 A/A
Common in clinvar
Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).
Publications on this SNP on the Public Library of Science:
First Author
Title
Year of Publication
# of readers
Laura De Lellis
Integrative Analysis of Hereditary Nonpolyposis Colorectal Cancer: the Contribution of Allele-Specific Expression and Other Assays to Diagnostic Algorithms
2013
1987
Steven M. Offer
Unique DNA Repair Gene Variations and Potential Associations with the Primary Antibody Deficiency Syndromes IgAD and CVID
2010
4277
Iñigo Landa
An Epistatic Interaction between the
PAX8
and
STK17B
Genes in Papillary Thyroid Cancer Susceptibility
2013
3363
Simone Picelli
Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility
2013
3220
Marion Dawn Teare
Comparing Methods for Mapping
cis
Acting Polymorphisms Using Allelic Expression Ratios
2011
1431
Miralem Mrkonjic
Specific Variants in the MLH1 Gene Region May Drive DNA Methylation, Loss of Protein Expression, and MSI-H Colorectal Cancer
2010
5281
Yadav Sapkota
Assessing SNP-SNP Interactions among DNA Repair, Modification and Metabolism Related Pathway Genes in Breast Cancer Susceptibility
2013
3548
Amit A. Negandhi
MTHFR
Glu429Ala and
ERCC5
His46His Polymorphisms Are Associated with Prognosis in Colorectal Cancer Patients: Analysis of Two Independent Cohorts from Newfoundland
2013
3424
Leilei Niu
The
hMLH1
−93G>A Polymorphism and Risk of Ovarian Cancer in the Chinese Population
2015
576
Sanmitra Basu
A Study of Molecular Signals Deregulating Mismatch Repair Genes in Prostate Cancer Compared to Benign Prostatic Hyperplasia
2015
3890
Omar Soukarieh
Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using
In Silico
Tools
2016
3772
Publications on this SNP on Mendeley
First Author
Title
Pub. Year
# of Readers
DOI
Andrea Mann
Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients.
2008
4
10.1016/j.ejca.2008.07.010
Mauro Santibanez Koref
MLH1 Differential allelic expression in mutation carriers and controls.
2010
3
10.1111/j.1469-1809.2010.00603.x
D. Rossi
The host genetic background of DNA repair mechanisms is an independent predictor of survival in diffuse large B-cell lymphoma
2011
2
10.1182/blood-2010-07-296244
Pier Luigi Zinzani
NIH Public Access
2012
1
10.1182/blood-2010-07-296244
Yu An
Polymorphisms in hMLH1 and risk of early-onset lung cancer in a southeast Chinese population
2008
4
10.1016/j.lungcan.2007.08.003
Yu An
Polymorphisms in hMLH1 and risk of early-onset lung cancer in a southeast Chinese population.
2008
3
-
J B Nayak
High throughput sequencing technology (Sequenom) as a tool to detect SNPs in human metastatic colorectal cancer (mCRC) and cell lines
2011
1
-
Davide Rossi
The host genetic background of DNA repair mechanisms is an independent predictor of survival in diffuse large B-cell lymphoma.
2011
1
10.1182/blood-2010-07-296244
Davide Rossi
The host genetic background of DNA repair mechanisms is an independent predictor of survival in diffuse large B-cell lymphoma.
2011
6
-
A Mann
Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients
2008
2
10.1016/j.ejca.2008.07.010
Chau-To Kwok
Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome.
2010
8
10.1007/s10689-009-9314-0
A Mann
Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients
2008
1
10.1016/j.ejca.2008.07.010
Yu An
Polymorphisms in hMLH1 and risk of early-onset lung cancer in a southeast Chinese population.
2008
4
10.1016/j.lungcan.2007.08.003
A Mann
Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients
2008
1
Simone Picelli
Common variants in human CRC genes as low-risk alleles.
2010
11
10.1016/j.ejca.2010.01.013
Yadav Sapkota
Assessing SNP-SNP interactions among DNA repair, modification and metabolism related pathway genes in breast cancer susceptibility.
2013
3
10.1371/journal.pone.0064896
Davide Rossi
The host genetic background of DNA repair mechanisms is an independent predictor of survival in diffuse large B-cell lymphoma.
2010
1
10.1182/blood-2010-07-296244
D Rossi
The genotype of MLH1 is an independent predictor of outcome in diffuse large B-cell lymphoma treated with R-CHOP: A training-validation study
2010
1
Andrea Mann
Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients.
2008
1
10.1016/j.ejca.2008.07.010
Nargisse Nejda
A MLH1 polymorphism that increases cancer risk is associated with better outcome in sporadic colorectal cancer.
2009
2
-
D Rossi
The host genetic background of DNA repair mechanisms is an independent predictor of survival in diffuse large B-cell lymphoma
2011
3
blood-2010-07-296244 [pii]\r10.1182/blood-2010-07-296244
Andrea Mann
Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients
2008
1
10.1016/j.ejca.2008.07.010
Andrea Mann
Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients.
2008
8
-
J B Nayak
High throughput sequencing technology (Sequenom) as a tool to detect SNPs in human metastatic colorectal cancer (mCRC) and cell lines
2011
1
Davide Rossi
The host genetic background of DNA repair mechanisms is an independent predictor of survival in diffuse large B-cell lymphoma.
2011
4
10.1182/blood-2010-07-296244
Andrea Mann
Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients.
2008
1
10.1016/j.ejca.2008.07.010
L Svampane
Epidemiological analysis of hereditary endometrial cancer in a large study population
2013
1
10.1007/s00404-013-3074-7
Nargisse Nejda
A MLH1 polymorphism that increases cancer risk is associated with better outcome in sporadic colorectal cancer
2009
5
10.1016/j.cancergencyto.2009.04.011
Chau-To Kwok
Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome.
2010
4
-
Davide Rossi
The host genetic background of DNA repair mechanisms is an independent predictor of survival in diffuse large B-cell lymphoma
2011
6
10.1182/blood-2010-07-296244
Nargisse Nejda
A MLH1 polymorphism that increases cancer risk is associated with better outcome in sporadic colorectal cancer.
2009
4
10.1016/j.cancergencyto.2009.04.011
Evidence compiled by the
Personal Genome Project
There are no results from the
Personal Genome Project
yet. Please come back later.
Publications listed by
Genome.gov
There are no results from
genome.gov
yet. Please come back later.
Users who share this SNP:
Genome Browser
Human GrCh38/hg38
Genome
Genes
Gene structures from GENCODE 21
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