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rs63750004

From SNPedia

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


Make rs63750004(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position73173655
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750004
dbSNP (classic)rs63750004
ClinGenrs63750004
ebirs63750004
HLIrs63750004
Exacrs63750004
Gnomadrs63750004
Varsomers63750004
LitVarrs63750004
Maprs63750004
PheGenIrs63750004
Biobankrs63750004
1000 genomesrs63750004
hgdprs63750004
ensemblrs63750004
geneviewrs63750004
scholarrs63750004
googlers63750004
pharmgkbrs63750004
gwascentralrs63750004
openSNPrs63750004
23andMers63750004
23andMe allrs63750004
SNPshotrs63750004
SNPdbers63750004
MSV3drs63750004
GWAS Ctlgrs63750004
Max Magnitude7

rs63750004, also known as c.428T>A, Ile143Asn and I143D, and also c.428T>C, Ile143Thr or I143T, is a SNP in the presenilin 1 PSEN1 gene.

Inherited as an autosomal dominant, the rare rs63750004(A) and rs63750004(C) alleles are both considered pathogenic for early-onset Alzheimer's disease in AlzForum.

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

ClinVar
Risk rs63750004(C;C)
Alt rs63750004(C;C)
Reference Rs63750004(T;T)
Significance Untested
Disease not provided
Variation info
Gene PSEN1
CLNDBN not provided
Reversed 0
HGVS NC_000014.8:g.73640363T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000084308.1,