rs63750666
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 8 | early-onset Alzheimer's disease; penetrance unclear |
Make rs63750666(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 226895521 |
Gene | PSEN2 |
is a | snp |
is | mentioned by |
dbSNP | rs63750666 |
dbSNP (classic) | rs63750666 |
ClinGen | rs63750666 |
ebi | rs63750666 |
HLI | rs63750666 |
Exac | rs63750666 |
Gnomad | rs63750666 |
Varsome | rs63750666 |
LitVar | rs63750666 |
Map | rs63750666 |
PheGenI | rs63750666 |
Biobank | rs63750666 |
1000 genomes | rs63750666 |
hgdp | rs63750666 |
ensembl | rs63750666 |
geneview | rs63750666 |
scholar | rs63750666 |
rs63750666 | |
pharmgkb | rs63750666 |
gwascentral | rs63750666 |
openSNP | rs63750666 |
23andMe | rs63750666 |
SNPshot | rs63750666 |
SNPdbe | rs63750666 |
MSV3d | rs63750666 |
GWAS Ctlg | rs63750666 |
Max Magnitude | 8 |
rs63750666, also known as c.1289C>T, T430M or Thr430Met, is a SNP in the presenilin 2 PSEN2 gene.
Acting as an autosomal dominant, the rare rs63750666(T) allele has been suggested to lead to early-onset Alzheimer's disease. However, a sibling who shared this mutation with an Alzheimer's patient did not show signs of early-onset disease, so this mutation may have reduced penetrance.[PMID 12925374]
ClinVar | |
---|---|
Risk | rs63750666(T;T) |
Alt | rs63750666(T;T) |
Reference | Rs63750666(C;C) |
Significance | Pathogenic |
Disease | Alzheimer disease not provided |
Variation | info |
Gene | ADCK3 PSEN2 |
CLNDBN | Alzheimer disease, type 4 not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.227083222C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009396.4, RCV000084268.1, |