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rs121917809

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121917809(A;G)
Make rs121917809(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position73211811
GenePSEN1
is asnp
is mentioned by
dbSNPrs121917809
ebirs121917809
HLIrs121917809
Exacrs121917809
Varsomers121917809
Maprs121917809
PheGenIrs121917809
hapmaprs121917809
1000 genomesrs121917809
hgdprs121917809
ensemblrs121917809
gopubmedrs121917809
geneviewrs121917809
scholarrs121917809
googlers121917809
pharmgkbrs121917809
gwascentralrs121917809
openSNPrs121917809
23andMers121917809
23andMe allrs121917809
SNP Nexus

SNPshotrs121917809
SNPdbers121917809
MSV3drs121917809
GWAS Ctlgrs121917809
Max Magnitude0
OMIM104311
Desc
Variant0034
Relatedalso
ClinVar
Risk rs121917809(G;G)
Alt rs121917809(G;G)
Reference rs121917809(A;A)
Significance Pathogenic
Disease Cardiomyopathy Heart failure Primary dilated cardiomyopathy
Variation info
Gene PSEN1
CLNDBN Cardiomyopathy, dilated, 1u Heart failure Primary dilated cardiomyopathy
Reversed 0
HGVS NC_000014.8:g.73678519A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019786.26, RCV000171844.2,