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rs653178

From SNPedia

Orientationminus
Stabilizedminus
Make rs653178(A;A)
Make rs653178(A;G)
Make rs653178(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position111569952
GeneATXN2
is asnp
is mentioned by
dbSNPrs653178
ebirs653178
HLIrs653178
Exacrs653178
Varsomers653178
Maprs653178
PheGenIrs653178
hapmaprs653178
1000 genomesrs653178
hgdprs653178
ensemblrs653178
gopubmedrs653178
geneviewrs653178
scholarrs653178
googlers653178
pharmgkbrs653178
gwascentralrs653178
openSNPrs653178
23andMers653178
23andMe allrs653178
SNP Nexus

SNPshotrs653178
SNPdbers653178
MSV3drs653178
GWAS Ctlgrs653178
GMAF0.219
Max Magnitude
? (A;A) (A;G) (G;G) 28
This SNP, rs653178, is basically a proxy (r2>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 19430483OA-icon.png]

23andMe blog blood pressure

GWAS snp
PMID [PMID 18311140OA-icon.png]
Trait Celiac disease
Title Newly identified genetic risk variants for celiac disease related to the immune response
Risk Allele G
P-val 8.0000000000000002E-8
Odds Ratio 1.21 [1.13-1.30]
GWAS snp
PMID [PMID 19430483OA-icon.png]
Trait Diastolic Blood Pressure
Title Genome-wide association study identifies eight loci associated with blood pressure
Risk Allele T
P-val 3E-18
Odds Ratio 0.46 [0.36-0.56] mm Hg decrease
OMIM612011
DescCELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13
Variant
Relatedalso
GWAS snp
PMID [PMID 20190752OA-icon.png]
Trait Celiac disease
Title Multiple common variants for celiac disease influencing immune gene expression
Risk Allele G
P-val 7E-21
Odds Ratio 1.20 [1.15-1.24]
GWAS snp
PMID [PMID 20383146OA-icon.png]
Trait Chronic kidney disease
Title New loci associated with kidney function and chronic kidney disease
Risk Allele T
P-val 4E-11
Odds Ratio 0.01 [0.009-0.017] ml/min/1.73 m2 increase
GWAS snp
PMID [PMID 21383967OA-icon.png]
Trait
Title Meta-Analysis of Genome-Wide Association Studies in Celiac Disease and Rheumatoid Arthritis Identifies Fourteen Non-HLA Shared Loci
Risk Allele C
P-val 3E-19
Odds Ratio None None


[PMID 21963141] Genetic variations in CYP17A1, CACNB2 and PLEKHA7 are associated with blood pressure and/or hypertension in she ethnic minority of China

GWAS snp
PMID [PMID 21909110OA-icon.png]
Trait
Title Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
Risk Allele T
P-val 7E-20
Odds Ratio 0.4290 [0.34-0.52] mmHg decrease


[PMID 16205789OA-icon.png] Positive selection of a pre-expansion CAG repeat of the human SCA2 gene.


[PMID 18713140OA-icon.png] Translational mini-review series on the immunogenetics of gut disease: immunogenetics of coeliac disease.


[PMID 18853133OA-icon.png] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.


[PMID 20369022OA-icon.png] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.


[PMID 20542020] Confirmation of top polymorphisms in hypertension genome wide association study among Han Chinese.


[PMID 20647273OA-icon.png] Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis.


GET Evidence
rs653178
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.773438
summary



GWAS snp
PMID [PMID 23263486OA-icon.png]
Trait Urate levels
Title Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
Risk Allele T
P-val 7E-12
Odds Ratio .04 [0.025-0.045] mg/dl decrease


[PMID 23474010OA-icon.png] Overlap between common genetic polymorphisms underpinning kidney traits and cardiovascular disease phenotypes: the CKDGen consortium


[PMID 23844121OA-icon.png] Thrombotic Antiphospholipid Syndrome Shows Strong Haplotypic Association with SH2B3-ATXN2 Locus


[PMID 25009551OA-icon.png] The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study

GWAS snp
PMID [PMID 24586183OA-icon.png]
Trait Serum thyroid peroxidase antibody levels
Title Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.
Risk Allele C
P-val 1E-7
Odds Ratio .01 [0.0059-0.0235] unit increase


[PMID 25893417] Genetic variants associated with celiac disease and the risk for coronary artery disease


[PMID 27338949] Mendelian Randomisation study of the influence of eGFR on coronary heart disease.