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rs63750526

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 8 early-onset Alzheimers disease
(C;C) 0 common in clinvar


Make rs63750526(A;A)
ReferenceGRCh38 38.1/141
Chromosome14
Position73192832
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750526
ebirs63750526
HLIrs63750526
Exacrs63750526
Varsomers63750526
Maprs63750526
PheGenIrs63750526
hapmaprs63750526
1000 genomesrs63750526
hgdprs63750526
ensemblrs63750526
gopubmedrs63750526
geneviewrs63750526
scholarrs63750526
googlers63750526
pharmgkbrs63750526
gwascentralrs63750526
openSNPrs63750526
23andMers63750526
23andMe allrs63750526
SNP Nexus

SNPshotrs63750526
SNPdbers63750526
MSV3drs63750526
GWAS Ctlgrs63750526
Max Magnitude8

rs63750526, also known as A246E or Ala246Glu, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63750526(A) allele is reported as causative for early-onset Alzheimer's disease.[PMID 7596406]

OMIM104311
Desc
Variant0003
Relatedalso


ClinVar
Risk rs63750526(A;A)
Alt rs63750526(A;A)
Reference rs63750526(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.73659540C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019753.26, RCV000084361.1,