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rs121917808

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 8 Alzheimer's disease, early-onset, as reported
(C;C) 0 common in clinvar


Make rs121917808(A;A)
ReferenceGRCh38 38.1/141
Chromosome14
Position73219192
GenePSEN1
is asnp
is mentioned by
dbSNPrs121917808
dbSNP (old)rs121917808
ClinGenrs121917808
ebirs121917808
HLIrs121917808
Exacrs121917808
Gnomadrs121917808
Varsomers121917808
Maprs121917808
PheGenIrs121917808
Biobankrs121917808
1000 genomesrs121917808
hgdprs121917808
ensemblrs121917808
gopubmedrs121917808
geneviewrs121917808
scholarrs121917808
googlers121917808
pharmgkbrs121917808
gwascentralrs121917808
openSNPrs121917808
23andMers121917808
23andMe allrs121917808
SNP Nexus

SNPshotrs121917808
SNPdbers121917808
MSV3drs121917808
GWAS Ctlgrs121917808
Merged fromRs28930977
Max Magnitude8

PSEN1 mutation, c.1307C>A, p.Pro436Gln, P436Q

Listed in ClinVar, OMIM and AlzForum as pathogenic for early-onset Alzheimer's disease. Note that the clinical symptoms are reported to potentially include spastic spastic paraparesis (paraplegia).

OMIM104311
Desc
Variant0028
Relatedalso
ClinVar
Risk rs121917808(A;A)
Alt rs121917808(A;A)
Reference Rs121917808(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.73685900C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019780.28, RCV000084580.1,