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rs143624519

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2.5 some increase in risk for neurodegenerative disorders
(A;G) 2.5 slight? increase in risk for neurodegenerative disorders
(G;G) 0 common/normal
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position45991484
GeneMAPT
is asnp
is mentioned by
dbSNPrs143624519
ebirs143624519
HLIrs143624519
Exacrs143624519
Varsomers143624519
Maprs143624519
PheGenIrs143624519
hapmaprs143624519
1000 genomesrs143624519
hgdprs143624519
ensemblrs143624519
gopubmedrs143624519
geneviewrs143624519
scholarrs143624519
googlers143624519
pharmgkbrs143624519
gwascentralrs143624519
openSNPrs143624519
23andMers143624519
23andMe allrs143624519
SNP Nexus

SNPshotrs143624519
SNPdbers143624519
MSV3drs143624519
GWAS Ctlgrs143624519
Max Magnitude2.5
rs143624519, also known as c.454G>A, p.Ala152Thr and A152T, represents a relatively rare variant in the MAPT gene on chromosome 17. This variant may also be known as tau-A152.

Publications have linked the rare rs143624519(A) allele to somewhat increased risk for neurodegenerative diseases. As stated here on AlzForum, "Unlike the majority of pathogenic mutations in MAPT, the A152T variant does not appear to cause autosomal-dominant disease. Instead, it acts as a risk modifier and increases susceptibility to several neurodegenerative conditions, including Alzheimer's disease, frontotemporal dementia, and dementia with Lewy bodies". The odds ratios vary between conditions - and publications - but range between about 2 to 6.