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rs145999145

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome19
Position40371688
GenePLD3
is asnp
is mentioned by
dbSNPrs145999145
ebirs145999145
HLIrs145999145
Exacrs145999145
Varsomers145999145
Maprs145999145
PheGenIrs145999145
hapmaprs145999145
1000 genomesrs145999145
hgdprs145999145
ensemblrs145999145
gopubmedrs145999145
geneviewrs145999145
scholarrs145999145
googlers145999145
pharmgkbrs145999145
gwascentralrs145999145
openSNPrs145999145
23andMers145999145
23andMe allrs145999145
SNP Nexus

SNPshotrs145999145
SNPdbers145999145
MSV3drs145999145
GWAS Ctlgrs145999145
Max Magnitude2
rs145999145, also known as Val232Met 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 24336208OA-icon.png]

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
CLNACC RCV000106322.3,