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rs533487738

From SNPedia

Orientationplus
Stabilizedplus
Make rs533487738(C;C)
Make rs533487738(C;G)
Make rs533487738(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome14
Position73136373
GenePSEN1
is asnp
is mentioned by
dbSNPrs533487738
dbSNP (old)rs533487738
ClinGenrs533487738
ebirs533487738
HLIrs533487738
Exacrs533487738
Gnomadrs533487738
Varsomers533487738
Maprs533487738
PheGenIrs533487738
Biobankrs533487738
1000 genomesrs533487738
hgdprs533487738
ensemblrs533487738
gopubmedrs533487738
geneviewrs533487738
scholarrs533487738
googlers533487738
pharmgkbrs533487738
gwascentralrs533487738
openSNPrs533487738
23andMers533487738
23andMe allrs533487738
SNPshotrs533487738
SNPdbers533487738
MSV3drs533487738
GWAS Ctlgrs533487738
Max Magnitude

[PMID 27569544OA-icon.png] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.