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rs63750227

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 8.8 Alzheimer's disease, early-onset (reported)
(G;G) 0 common/normal


Make rs63750227(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position73217221
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750227
dbSNP (old)rs63750227
ClinGenrs63750227
ebirs63750227
HLIrs63750227
Exacrs63750227
Gnomadrs63750227
Varsomers63750227
LitVarrs63750227
Maprs63750227
PheGenIrs63750227
Biobankrs63750227
1000 genomesrs63750227
hgdprs63750227
ensemblrs63750227
gopubmedrs63750227
geneviewrs63750227
scholarrs63750227
googlers63750227
pharmgkbrs63750227
gwascentralrs63750227
openSNPrs63750227
23andMers63750227
23andMe allrs63750227
SNPshotrs63750227
SNPdbers63750227
MSV3drs63750227
GWAS Ctlgrs63750227
Max Magnitude8.8

c.1225G>A (p.Ala409Thr)

ClinVar
Risk rs63750227(A;A)
Alt rs63750227(A;A)
Reference Rs63750227(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene PSEN1
CLNDBN not provided
Reversed 0
HGVS NC_000014.8:g.73683929G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000084406.1,