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rs63750265

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 8.8 Alzheimer's disease, early-onset (reported)
(T;T) 0 common in clinvar


Make rs63750265(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position73186869
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750265
dbSNP (classic)rs63750265
ClinGenrs63750265
ebirs63750265
HLIrs63750265
Exacrs63750265
Gnomadrs63750265
Varsomers63750265
LitVarrs63750265
Maprs63750265
PheGenIrs63750265
Biobankrs63750265
1000 genomesrs63750265
hgdprs63750265
ensemblrs63750265
geneviewrs63750265
scholarrs63750265
googlers63750265
pharmgkbrs63750265
gwascentralrs63750265
openSNPrs63750265
23andMers63750265
SNPshotrs63750265
SNPdbers63750265
MSV3drs63750265
GWAS Ctlgrs63750265
Max Magnitude8.8
OMIM104311
Desc
Variant0024
Relatedalso
ClinVar
Risk rs63750265(C;C) rs63750265(G;G)
Alt rs63750265(C;C) rs63750265(G;G)
Reference Rs63750265(T;T)
Significance Pathogenic
Disease Alzheimer disease not provided
Variation info
Gene PSEN1
CLNDBN Alzheimer disease, type 3 not provided
Reversed 0
HGVS NC_000014.8:g.73653577T>C; NC_000014.8:g.73653577T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019776.28, RCV000084322.1,