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rs63750590

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 8 early onset Alzheimers disease
Make rs63750590(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position73186860
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750590
ebirs63750590
HLIrs63750590
Exacrs63750590
Varsomers63750590
Maprs63750590
PheGenIrs63750590
hapmaprs63750590
1000 genomesrs63750590
hgdprs63750590
ensemblrs63750590
gopubmedrs63750590
geneviewrs63750590
scholarrs63750590
googlers63750590
pharmgkbrs63750590
gwascentralrs63750590
openSNPrs63750590
23andMers63750590
23andMe allrs63750590
SNP Nexus

SNPshotrs63750590
SNPdbers63750590
MSV3drs63750590
GWAS Ctlgrs63750590
Max Magnitude8

rs63750590, also known as H163R or His163Arg, is a SNP in the presenilin 1 PSEN1 gene.

Based on limited data, the rare rs63750590(G) allele is considered causative for early-onset Alzheimer's disease.[PMID 7596406]

OMIM104311
Desc
Variant0002
Relatedalso


ClinVar
Risk rs63750590(G;G)
Alt rs63750590(G;G)
Reference rs63750590(A;A)
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.73653568A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019752.28, RCV000084318.1,