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rs63750687

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63750687(C;G)
Make rs63750687(G;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position73217137
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750687
ebirs63750687
HLIrs63750687
Exacrs63750687
Varsomers63750687
Maprs63750687
PheGenIrs63750687
hapmaprs63750687
1000 genomesrs63750687
hgdprs63750687
ensemblrs63750687
gopubmedrs63750687
geneviewrs63750687
scholarrs63750687
googlers63750687
pharmgkbrs63750687
gwascentralrs63750687
openSNPrs63750687
23andMers63750687
23andMe allrs63750687
SNP Nexus

SNPshotrs63750687
SNPdbers63750687
MSV3drs63750687
GWAS Ctlgrs63750687
Max Magnitude0
ClinVar
Risk rs63750687(G,T;G,T)
Alt rs63750687(G,T;G,T)
Reference rs63750687(C;C)
Significance Pathogenic
Disease not provided Alzheimer disease Alzheimer disease familial 3
Variation info
Gene PSEN1
CLNDBN not provided Alzheimer disease, type 3 Alzheimer disease familial 3, with spastic paraparesis
Reversed 0
HGVS NC_000014.8:g.73683845C>G; NC_000014.8:g.73683845C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000084397.1, RCV000198517.1, RCV000106293.3,