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rs63751235

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 9 early-onset Alzheimers disease
Make rs63751235(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position73198117
GenePSEN1
is asnp
is mentioned by
dbSNPrs63751235
ebirs63751235
HLIrs63751235
Exacrs63751235
Varsomers63751235
Maprs63751235
PheGenIrs63751235
hapmaprs63751235
1000 genomesrs63751235
hgdprs63751235
ensemblrs63751235
gopubmedrs63751235
geneviewrs63751235
scholarrs63751235
googlers63751235
pharmgkbrs63751235
gwascentralrs63751235
openSNPrs63751235
23andMers63751235
23andMe allrs63751235
SNP Nexus

SNPshotrs63751235
SNPdbers63751235
MSV3drs63751235
GWAS Ctlgrs63751235
Max Magnitude9

rs63751235, also known as L286V or Leu286Val, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63751235(G) allele is considered causative for early-onset Alzheimer's disease.[PMID 7596406]

OMIM104311
Desc
Variant0004
Relatedalso


ClinVar
Risk rs63751235(G;G)
Alt rs63751235(G;G)
Reference rs63751235(C;C)
Significance Pathogenic
Disease Alzheimer disease not provided
Variation info
Gene PSEN1
CLNDBN Alzheimer disease, type 3 not provided
Reversed 0
HGVS NC_000014.8:g.73664825C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019754.27, RCV000084387.1,