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rs63749891

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 9 early-onset Alzheimers disease
(G;G) 0 common in clinvar


Make rs63749891(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position73198094
GenePSEN1
is asnp
is mentioned by
dbSNPrs63749891
ebirs63749891
HLIrs63749891
Exacrs63749891
Varsomers63749891
Maprs63749891
PheGenIrs63749891
hapmaprs63749891
1000 genomesrs63749891
hgdprs63749891
ensemblrs63749891
gopubmedrs63749891
geneviewrs63749891
scholarrs63749891
googlers63749891
pharmgkbrs63749891
gwascentralrs63749891
openSNPrs63749891
23andMers63749891
23andMe allrs63749891
SNP Nexus

SNPshotrs63749891
SNPdbers63749891
MSV3drs63749891
GWAS Ctlgrs63749891
Max Magnitude9

rs63749891, also known as R278T or Arg278Thr, is a SNP in the presenilin 1 PSEN1 gene.

Inherited as an autosomal dominant, the rare rs63749891(C) allele is associated with early-onset Alzheimer's disease.[PMID 9172170]

OMIM104311
Desc
Variant0017
Relatedalso
OMIM104311
Desc
Variant0030
Relatedalso
ClinVar
Risk rs63749891(C,T;C,T)
Alt rs63749891(C,T;C,T)
Reference rs63749891(G;G)
Significance Pathogenic
Disease Alzheimer disease Alzheimer disease not provided
Variation info
Gene PSEN1
CLNDBN Alzheimer disease, familial, with spastic paraparesis and unusual plaques Alzheimer disease, type 3 not provided
Reversed 0
HGVS NC_000014.8:g.73664802G>C; NC_000014.8:g.73664802G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019769.27, RCV000019782.28, RCV000084379.1,