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rs63751144

From SNPedia

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


Make rs63751144(A;A)
ReferenceGRCh38 38.1/141
Chromosome14
Position73186892
GenePSEN1
is asnp
is mentioned by
dbSNPrs63751144
ebirs63751144
HLIrs63751144
Exacrs63751144
Varsomers63751144
Maprs63751144
PheGenIrs63751144
hapmaprs63751144
1000 genomesrs63751144
hgdprs63751144
ensemblrs63751144
gopubmedrs63751144
geneviewrs63751144
scholarrs63751144
googlers63751144
pharmgkbrs63751144
gwascentralrs63751144
openSNPrs63751144
23andMers63751144
23andMe allrs63751144
SNP Nexus

SNPshotrs63751144
SNPdbers63751144
MSV3drs63751144
GWAS Ctlgrs63751144
Max Magnitude9

rs63751144, also known as L174M or Leu174Met, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63751144(A) allele is considered causative for early-onset Alzheimer's disease.[PMID 12484344]

OMIM104311
Desc
Variant0025
Relatedalso


ClinVar
Risk rs63751144(A;A)
Alt rs63751144(A;A)
Reference rs63751144(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.73653600C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019777.27, RCV000084329.1,