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rs8383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
(C;T)
(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position226895849
GenePSEN2
is asnp
is mentioned by
dbSNPrs8383
dbSNP (classic)rs8383
ClinGenrs8383
ebirs8383
HLIrs8383
Exacrs8383
Gnomadrs8383
Varsomers8383
LitVarrs8383
Maprs8383
PheGenIrs8383
Biobankrs8383
1000 genomesrs8383
hgdprs8383
ensemblrs8383
geneviewrs8383
scholarrs8383
googlers8383
pharmgkbrs8383
gwascentralrs8383
openSNPrs8383
23andMers8383
SNPshotrs8383
SNPdbers8383
MSV3drs8383
GWAS Ctlgrs8383
GMAF0.489
Max Magnitude0

[PMID 22580083] Presenilin-2 polymorphisms and risk of sporadic AD: Evidence from a meta-analysis


[PMID 19232479] Does the presenilin 2 gene predispose to schizophrenia?


ClinVar
Risk Rs8383(T;T)
Alt Rs8383(T;T)
Reference Rs8383(C;C)
Significance Probable-non-pathogenic
Disease Early-Onset Familial Alzheimer Disease Dilated Cardiomyopathy
Variation info
Gene ADCK3 PSEN2
CLNDBN Early-Onset Familial Alzheimer Disease Dilated Cardiomyopathy, Dominant
Reversed 0
HGVS NC_000001.10:g.227083550C>T
CLNSRC
CLNACC RCV000331661.1, RCV000386193.1,