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rs1057518919

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518919(G;G)
Make rs1057518919(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position73171023
GenePSEN1
is asnp
is mentioned by
dbSNPrs1057518919
dbSNP (classic)rs1057518919
ClinGenrs1057518919
ebirs1057518919
HLIrs1057518919
Exacrs1057518919
Gnomadrs1057518919
Varsomers1057518919
LitVarrs1057518919
Maprs1057518919
PheGenIrs1057518919
Biobankrs1057518919
1000 genomesrs1057518919
hgdprs1057518919
ensemblrs1057518919
geneviewrs1057518919
scholarrs1057518919
googlers1057518919
pharmgkbrs1057518919
gwascentralrs1057518919
openSNPrs1057518919
23andMers1057518919
SNPshotrs1057518919
SNPdbers1057518919
MSV3drs1057518919
GWAS Ctlgrs1057518919
Max Magnitude0
ClinVar
Risk rs1057518919(G;G)
Alt rs1057518919(G;G)
Reference Rs1057518919(T;T)
Significance Pathogenic
Disease Dementia Mental deterioration
Variation info
Gene PSEN1
CLNDBN Dementia Mental deterioration
Reversed 0
HGVS NC_000014.8:g.73637731T>G
CLNSRC
CLNACC RCV000415024.1,