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rs121917807

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917807(A;A)
Make rs121917807(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position73198057
GenePSEN1
is asnp
is mentioned by
dbSNPrs121917807
ebirs121917807
HLIrs121917807
Exacrs121917807
Varsomers121917807
Maprs121917807
PheGenIrs121917807
hapmaprs121917807
1000 genomesrs121917807
hgdprs121917807
ensemblrs121917807
gopubmedrs121917807
geneviewrs121917807
scholarrs121917807
googlers121917807
pharmgkbrs121917807
gwascentralrs121917807
openSNPrs121917807
23andMers121917807
23andMe allrs121917807
SNP Nexus

SNPshotrs121917807
SNPdbers121917807
MSV3drs121917807
GWAS Ctlgrs121917807
Max Magnitude0
OMIM104311
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121917807(A;A)
Alt rs121917807(A;A)
Reference rs121917807(G;G)
Significance Pathogenic
Disease Alzheimer disease
Variation info
Gene PSEN1
CLNDBN Alzheimer disease, familial, 3, with spastic paraparesis and apraxia
Reversed 0
HGVS NC_000014.8:g.73664765G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019774.27,