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rs63749885

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 9 early-onset Alzheimers disease
Make rs63749885(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position73186859
GenePSEN1
is asnp
is mentioned by
dbSNPrs63749885
ebirs63749885
HLIrs63749885
Exacrs63749885
Varsomers63749885
Maprs63749885
PheGenIrs63749885
hapmaprs63749885
1000 genomesrs63749885
hgdprs63749885
ensemblrs63749885
gopubmedrs63749885
geneviewrs63749885
scholarrs63749885
googlers63749885
pharmgkbrs63749885
gwascentralrs63749885
openSNPrs63749885
23andMers63749885
23andMe allrs63749885
SNP Nexus

SNPshotrs63749885
SNPdbers63749885
MSV3drs63749885
GWAS Ctlgrs63749885
Max Magnitude9

rs63749885, also known as H163Y or His163Tyr, is a SNP in the presenilin 1 PSEN1 gene.

Inherited as an autosomal dominant, the rare rs63749885(T) allele is considered pathogenic for early-onset Alzheimer's disease.[PMID 7550536]

OMIM104311
Desc
Variant0008
Relatedalso


ClinVar
Risk rs63749885(T;T)
Alt rs63749885(T;T)
Reference rs63749885(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.73653567C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019758.27, RCV000084317.1,