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rs267606983

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606983(C;C)
Make rs267606983(C;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position73192744
GenePSEN1
is asnp
is mentioned by
dbSNPrs267606983
ebirs267606983
HLIrs267606983
Exacrs267606983
Varsomers267606983
Maprs267606983
PheGenIrs267606983
hapmaprs267606983
1000 genomesrs267606983
hgdprs267606983
ensemblrs267606983
gopubmedrs267606983
geneviewrs267606983
scholarrs267606983
googlers267606983
pharmgkbrs267606983
gwascentralrs267606983
openSNPrs267606983
23andMers267606983
23andMe allrs267606983
SNP Nexus

SNPshotrs267606983
SNPdbers267606983
MSV3drs267606983
GWAS Ctlgrs267606983
Max Magnitude0
ClinVar
Risk rs267606983(C;C)
Alt rs267606983(C;C)
Reference rs267606983(G;G)
Significance Pathogenic
Disease Alzheimer disease
Variation info
Gene PSEN1
CLNDBN Alzheimer disease, familial, 3, with unusual plaques
Reversed 0
HGVS NC_000014.8:g.73659452G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019789.27,