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rs63751163

From SNPedia

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


Make rs63751163(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position73192844
GenePSEN1
is asnp
is mentioned by
dbSNPrs63751163
ebirs63751163
HLIrs63751163
Exacrs63751163
Varsomers63751163
Maprs63751163
PheGenIrs63751163
hapmaprs63751163
1000 genomesrs63751163
hgdprs63751163
ensemblrs63751163
gopubmedrs63751163
geneviewrs63751163
scholarrs63751163
googlers63751163
pharmgkbrs63751163
gwascentralrs63751163
openSNPrs63751163
23andMers63751163
23andMe allrs63751163
SNP Nexus

SNPshotrs63751163
SNPdbers63751163
MSV3drs63751163
GWAS Ctlgrs63751163
Max Magnitude9

rs63751163, also known as L250S or Leu250Ser, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63751163(C) allele is considered causative for early-onset Alzheimer's disease.[PMID 9436726OA-icon.png]

OMIM104311
Desc
Variant0016
Relatedalso


ClinVar
Risk rs63751163(C;C)
Alt rs63751163(C;C)
Reference rs63751163(T;T)
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.73659552T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019768.26, RCV000084363.1,