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rs63750418

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 8.8 Alzheimer's disease, early-onset (reported)
(T;T) 0 common/normal


Make rs63750418(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position73186877
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750418
dbSNP (old)rs63750418
ClinGenrs63750418
ebirs63750418
HLIrs63750418
Exacrs63750418
Gnomadrs63750418
Varsomers63750418
Maprs63750418
PheGenIrs63750418
Biobankrs63750418
1000 genomesrs63750418
hgdprs63750418
ensemblrs63750418
gopubmedrs63750418
geneviewrs63750418
scholarrs63750418
googlers63750418
pharmgkbrs63750418
gwascentralrs63750418
openSNPrs63750418
23andMers63750418
23andMe allrs63750418
SNPshotrs63750418
SNPdbers63750418
MSV3drs63750418
GWAS Ctlgrs63750418
Max Magnitude8.8

c.505T>C (p.Ser169Pro)

See AlzForum

ClinVar
Risk rs63750418(C;C)
Alt rs63750418(C;C)
Reference Rs63750418(T;T)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene PSEN1
CLNDBN not provided
Reversed 0
HGVS NC_000014.8:g.73653585T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000084324.1,