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rs1295645

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1295645(C;T)
Make rs1295645(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position226871336
GeneLOC105373119, PSEN2
is asnp
is mentioned by
dbSNPrs1295645
dbSNP (old)rs1295645
ClinGenrs1295645
ebirs1295645
HLIrs1295645
Exacrs1295645
Gnomadrs1295645
Varsomers1295645
Maprs1295645
PheGenIrs1295645
Biobankrs1295645
1000 genomesrs1295645
hgdprs1295645
ensemblrs1295645
gopubmedrs1295645
geneviewrs1295645
scholarrs1295645
googlers1295645
pharmgkbrs1295645
gwascentralrs1295645
openSNPrs1295645
23andMers1295645
23andMe allrs1295645
SNP Nexus

SNPshotrs1295645
SNPdbers1295645
MSV3drs1295645
GWAS Ctlgrs1295645
Max Magnitude0
? (C;C) (C;T) (T;T) 28
A SNP in the presenilin gene PSEN2.


ClinVar
Risk rs1295645(T;T)
Alt rs1295645(T;T)
Reference Rs1295645(C;C)
Significance Probable-non-pathogenic
Disease Early-Onset Familial Alzheimer Disease Dilated Cardiomyopathy
Variation info
Gene PSEN2
CLNDBN Early-Onset Familial Alzheimer Disease Dilated Cardiomyopathy, Dominant
Reversed 0
HGVS NC_000001.10:g.227059037C>T
CLNSRC
CLNACC RCV000309678.1, RCV000364413.1,