{{Rsnum
|rsid=653178
|Gene=ATXN2
|Chromosome=12
|position=111569952
|Orientation=plus
|GMAF=0.219
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ATXN2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 33.6 | 45.1 | 21.2
| HCB | 99.3 | 0.7 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 80.7 | 17.5 | 1.8
| CHB | 99.3 | 0.7 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 78.2 | 19.8 | 2.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 60.3 | 36.2 | 3.4
| MKK | 0.0 | 0.0 | 0.0
| TSI | 18.6 | 56.9 | 24.5
| HapMapRevision=28
}}This SNP, [[rs653178]], is basically a proxy (r<sup>2</sup>>0.99) for [[rs3184504]], as both are associated with [[celiac disease]]; see [[rs3184504]] for more details.

This SNP is also associated with risk of hypertension. {{PMID|19430483|OA=1
}}

[http://blog.23andme.com/2009/05/12/snpwatch-researchers-find-more-genetic-variations-associated-with-blood-pressure/ 23andMe blog] [[blood pressure]]

{{PMID Auto GWAS
|PMID=18311140
|Trait=Celiac disease
|Title=Newly identified genetic risk variants for celiac disease related to the immune response
|RiskAllele=G
|Pval=8.0000000000000002E-8
|OR=1.21
|ORtxt=[1.13-1.30]
|OA=1
}}
{{PMID Auto GWAS
|PMID=19430483
|Trait=Diastolic Blood Pressure
|Title=Genome-wide association study identifies eight loci associated with blood pressure
|RiskAllele=T
|Pval=3E-18
|OR=0.46
|ORtxt=[0.36-0.56] mm Hg decrease
|OA=1
}}

{{omim
|desc=CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13
|id=612011
|rsnum=653178
}}

{{PMID Auto GWAS
|PMID=20190752
|Trait=Celiac disease
|Title=Multiple common variants for celiac disease influencing immune gene expression
|RiskAllele=G
|Pval=7E-21
|OR=1.20
|ORtxt=[1.15-1.24]
|OA=1
}}
{{PMID Auto GWAS
|PMID=20383146
|Trait=Chronic kidney disease
|Title=New loci associated with kidney function and chronic kidney disease
|RiskAllele=T
|Pval=4E-11
|OR=0.01
|ORtxt=[0.009-0.017] ml/min/1.73 m2 increase
|OA=1
}}

{{PMID Auto GWAS
|PMID=21383967
|Trait=None
|Title=Meta-Analysis of Genome-Wide Association Studies in Celiac Disease and Rheumatoid Arthritis Identifies Fourteen Non-HLA Shared Loci
|RiskAllele=C
|Pval=3E-19
|OR=None
|ORtxt=None
|OA=1
}}

{{PMID Auto
|PMID=21963141
|Title=Genetic variations in CYP17A1, CACNB2 and PLEKHA7 are associated with blood pressure and/or hypertension in she ethnic minority of China
}}

{{PMID Auto GWAS
|PMID=21909110
|Trait=None
|Title=Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
|RiskAllele=T
|Pval=7E-20
|OR=0.4290
|ORtxt=[0.34-0.52] mmHg decrease
|OA=1
}}

{{PMID Auto
|PMID=16205789
|Title=Positive selection of a pre-expansion CAG repeat of the human SCA2 gene.
|OA=1
}}

{{PMID Auto
|PMID=18713140
|Title=Translational mini-review series on the immunogenetics of gut disease: immunogenetics of coeliac disease.
|OA=1
}}

{{PMID Auto
|PMID=18853133
|Title=Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=20369022
|Title=Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.
|OA=1
}}

{{PMID Auto
|PMID=20542020
|Title=Confirmation of top polymorphisms in hypertension genome wide association study among Han Chinese.
}}

{{PMID Auto
|PMID=20647273
|Title=Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs653178
|overall_frequency_n=99
|overall_frequency_d=128
|overall_frequency=0.773438
|n_genomes=53
|n_genomes_annotated=0
|n_haplomes=87
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto GWAS
  |PMID=23263486
  |Trait=Urate levels
  |Title=Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
  |RiskAllele=T
  |Pval=7E-12
  |OR=.04
  |ORtxt=[0.025-0.045] mg/dl decrease
  |OA=1
}}

{{PMID Auto
|PMID=23474010
|Title=Overlap between common genetic polymorphisms underpinning kidney traits and cardiovascular disease phenotypes: the CKDGen consortium
}}

{{PMID Auto
|PMID=23844121
|Title=Thrombotic Antiphospholipid Syndrome Shows Strong Haplotypic Association with SH2B3-ATXN2 Locus
|OA=1
}}

{{PMID Auto
|PMID=25009551
|Title=The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Illumina Human 1M}}