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rs63751037

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 9 early-onset Alzheimers disease
Make rs63751037(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position73173642
GenePSEN1
is asnp
is mentioned by
dbSNPrs63751037
ebirs63751037
HLIrs63751037
Exacrs63751037
Varsomers63751037
Maprs63751037
PheGenIrs63751037
hapmaprs63751037
1000 genomesrs63751037
hgdprs63751037
ensemblrs63751037
gopubmedrs63751037
geneviewrs63751037
scholarrs63751037
googlers63751037
pharmgkbrs63751037
gwascentralrs63751037
openSNPrs63751037
23andMers63751037
23andMe allrs63751037
SNP Nexus

SNPshotrs63751037
SNPdbers63751037
MSV3drs63751037
GWAS Ctlgrs63751037
Max Magnitude9

rs63751037, also known as M139V or Met139Val, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63751037(G) allele is considered causative for early-onset Alzheimer's disease.[PMID 7550356]

OMIM104311
Desc
Variant0006
Relatedalso


ClinVar
Risk rs63751037(G;G)
Alt rs63751037(G;G)
Reference rs63751037(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.73640350A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019756.27, RCV000084304.1,



[PMID 7550356] The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Alzheimer's Disease Collaborative Group.


[PMID 12810495] Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementia.