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rs8070723

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
(A;G) 2 0.18x reduced risk of developing progressive supranuclear palsy
(G;G) 2.5 ~0.05x (thus greatly) reduced risk for developing progressive supranuclear palsy
ReferenceGRCh38 38.1/141
Chromosome17
Position46003698
GeneMAPT
is asnp
is mentioned by
dbSNPrs8070723
ebirs8070723
HLIrs8070723
Exacrs8070723
Varsomers8070723
Maprs8070723
PheGenIrs8070723
hapmaprs8070723
1000 genomesrs8070723
hgdprs8070723
ensemblrs8070723
gopubmedrs8070723
geneviewrs8070723
scholarrs8070723
googlers8070723
pharmgkbrs8070723
gwascentralrs8070723
openSNPrs8070723
23andMers8070723
23andMe allrs8070723
SNP Nexus

SNPshotrs8070723
SNPdbers8070723
MSV3drs8070723
GWAS Ctlgrs8070723
GMAF0.1455
Max Magnitude2.5
? (A;A) (A;G) (G;G) 28
GWAS snp
PMID [PMID 21044948OA-icon.png]
Trait
Title Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21
Risk Allele
P-val 7E-12
Odds Ratio 1.3000 [1.19-1.43]

Each copy of the G version of rs8070723 was associated with about 5.5 times lower odds of progressive supranuclear palsy. The researchers identified smaller effects at rs1411478, rs7571971 and rs1768208. 23andMe blog

GWAS snp
PMID [PMID 21685912OA-icon.png]
Trait
Title Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Risk Allele
P-val 2E-118
Odds Ratio 5.1100 [4.43-5.91]

[PMID 18985386OA-icon.png] Genomewide association study for susceptibility genes contributing to familial Parkinson disease.

[PMID 20070850OA-icon.png] Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.


[PMID 27115769] Gene expression, methylation and neuropathology correlations at progressive supranuclear palsy risk loci.


[PMID 25324900] Association of MAPT haplotypes with Alzheimer's disease risk and MAPT brain gene expression levels.