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rs63751223

From SNPedia

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


Make rs63751223(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position73219161
GenePSEN1
is asnp
is mentioned by
dbSNPrs63751223
ebirs63751223
HLIrs63751223
Exacrs63751223
Varsomers63751223
Maprs63751223
PheGenIrs63751223
hapmaprs63751223
1000 genomesrs63751223
hgdprs63751223
ensemblrs63751223
gopubmedrs63751223
geneviewrs63751223
scholarrs63751223
googlers63751223
pharmgkbrs63751223
gwascentralrs63751223
openSNPrs63751223
23andMers63751223
23andMe allrs63751223
SNP Nexus

SNPshotrs63751223
SNPdbers63751223
MSV3drs63751223
GWAS Ctlgrs63751223
Max Magnitude9

rs63751223, also known as A426P or Ala426Pro, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63751223(C) allele is considered causative for early-onset Alzheimer's disease.[PMID 9521423]

OMIM104311
Desc
Variant0014
Relatedalso


ClinVar
Risk rs63751223(C;C)
Alt rs63751223(C;C)
Reference rs63751223(G;G)
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.73685869G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019766.27, RCV000084411.1,