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rs28936379

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 9 early-onset Alzheimers disease
Make rs28936379(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position226888977
GenePSEN2
is asnp
is mentioned by
dbSNPrs28936379
ebirs28936379
HLIrs28936379
Exacrs28936379
Varsomers28936379
Maprs28936379
PheGenIrs28936379
hapmaprs28936379
1000 genomesrs28936379
hgdprs28936379
ensemblrs28936379
gopubmedrs28936379
geneviewrs28936379
scholarrs28936379
googlers28936379
pharmgkbrs28936379
gwascentralrs28936379
openSNPrs28936379
23andMers28936379
23andMe allrs28936379
SNP Nexus

SNPshotrs28936379
SNPdbers28936379
MSV3drs28936379
GWAS Ctlgrs28936379
Max Magnitude9

rs28936379, also known as M239V or Met239Val, is a SNP in the presenilin 2 PSEN2 gene.

Inherited as an autosomal dominant, the rare rs28936379(G) allele is considered causative for early-onset Alzheimer's disease. [PMID 7651536]

OMIM600759
DescALZHEIMER DISEASE, FAMILIAL, 4
Variant0002
Relatedalso


ClinVar
Risk rs28936379(G;G)
Alt rs28936379(G;G)
Reference rs28936379(A;A)
Significance Pathogenic
Disease Alzheimer disease not provided
Variation info
Gene PSEN2
CLNDBN Alzheimer disease, type 4 not provided
Reversed 0
HGVS NC_000001.10:g.227076678A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009394.4, RCV000084265.1,