rs143624519

plus

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

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

45991484

Gene

MAPT

is a	snp
is	mentioned by
dbSNP	rs143624519
dbSNP (classic)	rs143624519
ClinGen	rs143624519
ebi	rs143624519
HLI	rs143624519
Exac	rs143624519
Gnomad	rs143624519
Varsome	rs143624519
LitVar	rs143624519
Map	rs143624519
PheGenI	rs143624519
Biobank	rs143624519
1000 genomes	rs143624519
hgdp	rs143624519
ensembl	rs143624519
geneview	rs143624519
scholar	rs143624519
google	rs143624519
pharmgkb	rs143624519
gwascentral	rs143624519
openSNP	rs143624519
23andMe	rs143624519
SNPshot	rs143624519
SNPdbe	rs143624519
MSV3d	rs143624519
GWAS Ctlg	rs143624519

Max Magnitude

2.5

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.

ClinVar
Risk	Rs143624519(A;A) rs143624519(T;T)
Alt	Rs143624519(A;A) rs143624519(T;T)
Reference	Rs143624519(G;G)
Significance	Probable-non-pathogenic
Disease	MAPT-Related Spectrum Disorders
Variation	info
Gene	MAPT
CLNDBN	MAPT-Related Spectrum Disorders
Reversed	0
HGVS	NC_000017.10:g.44068850G>A
CLNSRC
CLNACC	RCV000356485.1,