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rs63749962

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 7 Alzheimer's disease (reported)
(G;T) 7 Alzheimer's disease (reported)
(T;T) 0 common/normal


Make rs63749962(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position73173570
GenePSEN1
is asnp
is mentioned by
dbSNPrs63749962
dbSNP (old)rs63749962
ClinGenrs63749962
ebirs63749962
HLIrs63749962
Exacrs63749962
Gnomadrs63749962
Varsomers63749962
Maprs63749962
PheGenIrs63749962
Biobankrs63749962
1000 genomesrs63749962
hgdprs63749962
ensemblrs63749962
gopubmedrs63749962
geneviewrs63749962
scholarrs63749962
googlers63749962
pharmgkbrs63749962
gwascentralrs63749962
openSNPrs63749962
23andMers63749962
23andMe allrs63749962
SNPshotrs63749962
SNPdbers63749962
MSV3drs63749962
GWAS Ctlgrs63749962
Max Magnitude7

rs63749962, also known as c.343T>C, Y115H or Tyr115His, or alternatively as c.343T>G, Y115D or Tyr115Asp, is a SNP in the presenilin 1 PSEN1 gene.

Inherited as an autosomal dominant, both the rare rs63749962(C) and rs63749962(G) alleles are considered pathogenic for early-onset Alzheimer's disease according to AlzForum.

Reported in [PMID 28350801OA-icon.png] to be a "definitely" pathogenic mutation.

ClinVar
Risk rs63749962(G;G)
Alt rs63749962(G;G)
Reference Rs63749962(T;T)
Significance Untested
Disease not provided
Variation info
Gene PSEN1
CLNDBN not provided
Reversed 0
HGVS NC_000014.8:g.73640278T>G
CLNSRC
CLNACC RCV000084294.1,