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rs6759

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs6759(C;T)
Make rs6759(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position226882036
GenePSEN2
is asnp
is mentioned by
dbSNPrs6759
dbSNP (classic)rs6759
ClinGenrs6759
ebirs6759
HLIrs6759
Exacrs6759
Gnomadrs6759
Varsomers6759
LitVarrs6759
Maprs6759
PheGenIrs6759
Biobankrs6759
1000 genomesrs6759
hgdprs6759
ensemblrs6759
geneviewrs6759
scholarrs6759
googlers6759
pharmgkbrs6759
gwascentralrs6759
openSNPrs6759
23andMers6759
SNPshotrs6759
SNPdbers6759
MSV3drs6759
GWAS Ctlgrs6759
Max Magnitude0
? (C;C) (C;T) (T;T) 28


A SNP in the presenilin gene PSEN2.


ClinVar
Risk rs6759(T;T)
Alt rs6759(T;T)
Reference Rs6759(C;C)
Significance Probable-non-pathogenic
Disease not specified Early-Onset Familial Alzheimer Disease Dilated Cardiomyopathy
Variation info
Gene PSEN2
CLNDBN not specified Early-Onset Familial Alzheimer Disease Dilated Cardiomyopathy, Dominant
Reversed 0
HGVS NC_000001.10:g.227069737C>T
CLNSRC
CLNACC RCV000244764.1, RCV000342061.1, RCV000378064.1,