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rs63750599

From SNPedia

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


Make rs63750599(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position73170963
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750599
ebirs63750599
HLIrs63750599
Exacrs63750599
Varsomers63750599
Maprs63750599
PheGenIrs63750599
hapmaprs63750599
1000 genomesrs63750599
hgdprs63750599
ensemblrs63750599
gopubmedrs63750599
geneviewrs63750599
scholarrs63750599
googlers63750599
pharmgkbrs63750599
gwascentralrs63750599
openSNPrs63750599
23andMers63750599
23andMe allrs63750599
SNP Nexus

SNPshotrs63750599
SNPdbers63750599
MSV3drs63750599
GWAS Ctlgrs63750599
Max Magnitude9

rs63750599, also known as L85P or Leu85Pro, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63750599(C) allele is considered causative for early-onset Alzheimer's disease.[PMID 15534188]
OMIM104311
Desc
Variant0031
Relatedalso


ClinVar
Risk rs63750599(C;C)
Alt rs63750599(C;C)
Reference rs63750599(T;T)
Significance Pathogenic
Disease Alzheimer disease not provided
Variation info
Gene PSEN1
CLNDBN Alzheimer disease, familial, 3, with spastic paraparesis and apraxia not provided
Reversed 0
HGVS NC_000014.8:g.73637671T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019783.28, RCV000084284.1,