openSNP
Toggle
News
Data
SNPs
Genotypes
Phenotypes
Phenotypes Pictures
Open Humans Connections
Latest Data
About
About Us
Statistics
FAQ
Sign In
x
It seems like you have JavaScript disabled. This will make some features of openSNP.org, like the drop-down menus, break.
SNP rs3135388
Basic Information
Name
rs3135388
Chromosome
6
Position
32445274
Weight of evidence
77
Genotype Frequency
Allele Frequency
Additional Information
SNPedia (3)
PLoS (17)
Mendeley (24)
Personal Genome Project (0)
Genome.gov (2)
Other users (1680)
Comments (0)
Links to SNPedia
Title
Summary
rs3135388 C/C
Normal
rs3135388 C/T
3x higher risk of multiple sclerosis
rs3135388 T/T
3-6x higher risk of multiple sclerosis
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
Rohina Rubicz
A Genome-Wide Integrative Genomic Study Localizes Genetic Factors Influencing Antibodies against Epstein-Barr Virus Nuclear Antigen 1 (EBNA-1)
2013
9845
Daria V. Zhernakova
DeepSAGE Reveals Genetic Variants Associated with Alternative Polyadenylation and Expression of Coding and Non-coding Transcripts
2013
8620
Elena García-Martín
Vitamin D3 Receptor
(
VDR
) Gene rs2228570 (Fok1) and rs731236 (Taq1) Variants Are Not Associated with the Risk for Multiple Sclerosis: Results of a New Study and a Meta-Analysis
2013
5909
Raymond D. Heatherly
Enabling Genomic-Phenomic Association Discovery without Sacrificing Anonymity
2013
2950
Adam E. Handel
The Effect of Single Nucleotide Polymorphisms from Genome Wide Association Studies in Multiple Sclerosis on Gene Expression
2010
5358
Emilio G. de la Concha
DRB1*03:01
Haplotypes: Differential Contribution to Multiple Sclerosis Risk and Specific Association with the Presence of Intrathecal IgM Bands
2012
2577
Manuel Comabella
Identification of a Novel Risk Locus for Multiple Sclerosis at 13q31.3 by a Pooled Genome-Wide Scan of 500,000 Single Nucleotide Polymorphisms
2008
5403
Eric R. Gamazon
A Study of CNVs As Trait-Associated Polymorphisms and As Expression Quantitative Trait Loci
2011
6342
Alexandra C. Nica
Candidate Causal Regulatory Effects by Integration of Expression QTLs with Complex Trait Genetic Associations
2010
15578
Judith Field
A Polymorphism in the
HLA-DPB1
Gene Is Associated with Susceptibility to Multiple Sclerosis
2010
5099
Naghmeh Jafari
Perspectives on the Use of Multiple Sclerosis Risk Genes for Prediction
2011
3961
Antonio Alcina
Multiple Sclerosis Risk Variant
HLA-DRB1*1501
Associates with High Expression of
DRB1
Gene in Different Human Populations
2012
21605
Annika Wennerström
Diversity of Extended
HLA-DRB1
Haplotypes in the Finnish Population
2013
3432
Joshua C. Denny
Chapter 13: Mining Electronic Health Records in the Genomics Era
2012
26492
Bruce A. C. Cree
A Major Histocompatibility Class I Locus Contributes to Multiple Sclerosis Susceptibility Independently from
HLA-DRB1*15:01
2010
8413
Denis A. Akkad
Combinations of Susceptibility Genes Are Associated with Higher Risk for Multiple Sclerosis and Imply Disease Course Specificity
2015
1867
Vito A. G. Ricigliano
EBNA2 Binds to Genomic Intervals Associated with Multiple Sclerosis and Overlaps with Vitamin D Receptor Occupancy
2015
2155
Publications on this SNP on Mendeley
First Author
Title
Pub. Year
# of Readers
DOI
Marcelo Matiello
HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica.
2010
5
-
Madeleine H Sombekke
HLA-DRB1*1501 and spinal cord magnetic resonance imaging lesions in multiple sclerosis.
2009
2
10.1001/archneurol.2009.278
Yvonne Benešová
Association of HLA-DRB1*1501 tagging rs3135388 gene polymorphism with multiple sclerosis
2013
7
10.1016/j.jneuroim.2012.10.014
Brittany A Morrison
Multiple sclerosis risk markers in HLA-DRA, HLA-C, and IFNG genes are associated with sex-specific childhood leukemia risk.
2010
7
-
Anna Vasku
Polymorphisms in HLA-related genes and psoriasis heredity in patients with psoriasis.
2013
1
10.1111/ijd.12213
Maja Živković
The tag SNP for HLA-DRB1*1501, rs3135388, is significantly associated with multiple sclerosis susceptibility: Cost-effective high-throughput detection by real-time PCR
2009
13
10.1016/j.cca.2009.05.004
Madeleine H Sombekke
HLA-DRB1*1501 and spinal cord magnetic resonance imaging lesions in multiple sclerosis.
2009
3
-
Marcelo Matiello
HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica.
2010
7
10.1177/1352458510374340
Brittany A Morrison
Multiple sclerosis risk markers in HLA-DRA, HLA-C, and IFNG genes are associated with sex-specific childhood leukemia risk.
2010
10
10.3109/08916930903567492
Antonio Alcina
Multiple sclerosis risk variant HLA-DRB1*1501 associates with high expression of DRB1 gene in different human populations
2012
29
10.1371/journal.pone.0029819
Yvonne Benešová
Association of HLA-DRB1*1501 tagging rs3135388 gene polymorphism with multiple sclerosis.
2013
7
10.1016/j.jneuroim.2012.10.014
Yvonne Benešová
Association of HLA-DRB1*1501 tagging rs3135388 gene polymorphism with multiple sclerosis.
2012
3
10.1016/j.jneuroim.2012.10.014
Maja Zivković
The tag SNP for HLA-DRB1*1501, rs3135388, is significantly associated with multiple sclerosis susceptibility: cost-effective high-throughput detection by real-time PCR.
2009
12
10.1016/j.cca.2009.05.004
A Goris
A Taqman assay for high-throughput genotyping of the multiple sclerosis-associated HLA-DRB1*1501 allele.
2008
7
10.1111/j.1399-0039.2008.01101.x
Madeleine H Sombekke
HLA-DRB1*1501 and spinal cord magnetic resonance imaging lesions in multiple sclerosis.
2009
1
10.1001/archneurol.2009.278
Maja Živković
Clinica Chimica Acta The tag SNP for HLA-DRB1 ⁎ 1501 , rs3135388 , is significantly associated with multiple sclerosis susceptibility : Cost-effective high-throughput detection by real-time PCR
2009
1
10.1016/j.cca.2009.05.004
Sonja Zehetmayer
Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients
2012
4
10.1007/s10048-012-0316-y
Antonio Alcina
Multiple Sclerosis Risk Variant HLA-DRB1 * 1501 Associates with High Expression of DRB1 Gene in Different Human Populations
2012
19
10.1371/journal.pone.0029819
Mascha C Schmied
Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients.
2012
5
10.1007/s10048-012-0316-y
Maja Zivković
The tag SNP for HLA-DRB1*1501, rs3135388, is significantly associated with multiple sclerosis susceptibility: cost-effective high-throughput detection by real-time PCR.
2009
7
-
S J Hebbring
A PheWAS approach in studying HLA-DRB1*1501.
2013
2
S J Hebbring
A PheWAS approach in studying HLA-DRB1*1501.
2013
5
10.1038/gene.2013.2
Concepción Delgado
Multiple Sclerosis Risk Variant HLA-DRB1*1501 Associates with High Expression of DRB1 Gene in Different Human Populations
2012
22
10.1371/journal.pone.0029819
Robert J Carroll
R PheWAS: Data Analysis and Plotting Tools for Phenome Wide Association Studies in the R Environment.
2014
2
10.1093/bioinformatics/btu197
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
First Author
Title
Journal
Publication Date
Trait
p-value
Confidence Interval
Hafler DA
Risk alleles for multiple sclerosis identified by a genomewide study.
N Engl J Med
07/29/2007
Multiple sclerosis
9.0e-81
[1.84-2.15]
De Jager PL
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
Nat Genet
06/14/2009
Multiple sclerosis
1.0e-100
[2.46-3.07]
Users who share this SNP:
Genome Browser