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rs11405

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs11405(C;C)
Make rs11405(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position226881976
GenePSEN2
is asnp
is mentioned by
dbSNPrs11405
dbSNP (classic)rs11405
ClinGenrs11405
ebirs11405
HLIrs11405
Exacrs11405
Gnomadrs11405
Varsomers11405
LitVarrs11405
Maprs11405
PheGenIrs11405
Biobankrs11405
1000 genomesrs11405
hgdprs11405
ensemblrs11405
geneviewrs11405
scholarrs11405
googlers11405
pharmgkbrs11405
gwascentralrs11405
openSNPrs11405
23andMers11405
SNPshotrs11405
SNPdbers11405
MSV3drs11405
GWAS Ctlgrs11405
Max Magnitude0
? (C;C) (C;T) (T;T) 28


A SNP in the presenilin gene PSEN2.


ClinVar
Risk rs11405(C;C)
Alt rs11405(C;C)
Reference Rs11405(T;T)
Significance Probable-non-pathogenic
Disease not specified Dilated Cardiomyopathy Early-Onset Familial Alzheimer Disease
Variation info
Gene PSEN2
CLNDBN not specified Dilated Cardiomyopathy, Dominant Early-Onset Familial Alzheimer Disease
Reversed 0
HGVS NC_000001.10:g.227069677T>C
CLNSRC
CLNACC RCV000248412.1, RCV000286903.1, RCV000372045.1,