rs145999145

plus

Geno	Mag	Summary
(A;A)	2	2x higher risk for Alzheimers disease
(A;G)	2	2x higher risk for Alzheimers disease
(G;G)	1	common

Reference

GRCh38 38.1/141

Chromosome

19

Position

40371688

Gene

PLD3

is a	snp
is	mentioned by
dbSNP	rs145999145
dbSNP (classic)	rs145999145
ClinGen	rs145999145
ebi	rs145999145
HLI	rs145999145
Exac	rs145999145
Gnomad	rs145999145
Varsome	rs145999145
LitVar	rs145999145
Map	rs145999145
PheGenI	rs145999145
Biobank	rs145999145
1000 genomes	rs145999145
hgdp	rs145999145
ensembl	rs145999145
geneview	rs145999145
scholar	rs145999145
google	rs145999145
pharmgkb	rs145999145
gwascentral	rs145999145
openSNP	rs145999145
23andMe	rs145999145
SNPshot	rs145999145
SNPdbe	rs145999145
MSV3d	rs145999145
GWAS Ctlg	rs145999145

Max Magnitude

2

rs145999145, also known as Val232Met or V232M, is a SNP in the phospholipase D family, member 3 PLD3 gene on chromosome 19. The rs145999145(G) allele encodes the Val; the (A) allele the Met.

A relatively rare variant in this SNP has been linked to a doubling of risk for Alzheimer's disease based on seven independent case-control series with a total of more than 11,000 cases and controls of European descent. Other rare variants in the PLD3 gene may also influence disease risk. [PMID 24336208 ]

ClinVar
Risk	Rs145999145(A;A)
Alt	Rs145999145(A;A)
Reference	Rs145999145(G;G)
Significance	Other
Disease	Alzheimer disease 19
Variation	info
Gene	PLD3
CLNDBN	Alzheimer disease 19
Reversed	0
HGVS	NC_000019.9:g.40877595G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000106322.4,