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rs28936380

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 9 early-onset Alzheimer's disease
Make rs28936380(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position226885546
GenePSEN2
is asnp
is mentioned by
dbSNPrs28936380
ebirs28936380
HLIrs28936380
Exacrs28936380
Varsomers28936380
Maprs28936380
PheGenIrs28936380
hapmaprs28936380
1000 genomesrs28936380
hgdprs28936380
ensemblrs28936380
gopubmedrs28936380
geneviewrs28936380
scholarrs28936380
googlers28936380
pharmgkbrs28936380
gwascentralrs28936380
openSNPrs28936380
23andMers28936380
23andMe allrs28936380
SNP Nexus

SNPshotrs28936380
SNPdbers28936380
MSV3drs28936380
GWAS Ctlgrs28936380
Merged fromRs137852703
Max Magnitude9

rs28936380, also known as T122R or Thr122Arg, is a SNP in the presenilin 2 PSEN2 gene.

Inherited as an autosomal dominant, the rare rs28936380(G) allele is considered causative for early-onset Alzheimer's disease.[PMID 14681895]

OMIM600759
DescALZHEIMER DISEASE, FAMILIAL, 4
Variant0007
Relatedalso
ClinVar
Risk rs28936380(G,T;G,T)
Alt rs28936380(G,T;G,T)
Reference rs28936380(C;C)
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.227073247C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009399.4, RCV000084579.1,