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rs63751141

From SNPedia

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


Make rs63751141(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position73170984
GenePSEN1
is asnp
is mentioned by
dbSNPrs63751141
ebirs63751141
HLIrs63751141
Exacrs63751141
Varsomers63751141
Maprs63751141
PheGenIrs63751141
hapmaprs63751141
1000 genomesrs63751141
hgdprs63751141
ensemblrs63751141
gopubmedrs63751141
geneviewrs63751141
scholarrs63751141
googlers63751141
pharmgkbrs63751141
gwascentralrs63751141
openSNPrs63751141
23andMers63751141
23andMe allrs63751141
SNP Nexus

SNPshotrs63751141
SNPdbers63751141
MSV3drs63751141
GWAS Ctlgrs63751141
Max Magnitude9

rs63751141, also known as C92S or Cys92Ser, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63751141(C) allele is considered causative for early-onset Alzheimer's disease.[PMID 11027672]

OMIM104311
Desc
Variant0020
Relatedalso


ClinVar
Risk rs63751141(C;C)
Alt rs63751141(C;C)
Reference rs63751141(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.73637692G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019772.27, RCV000084286.1,