rs775145486
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs775145486(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 226888116 |
Gene | PSEN2 |
is a | snp |
is | mentioned by |
dbSNP | rs775145486 |
dbSNP (classic) | rs775145486 |
ClinGen | rs775145486 |
ebi | rs775145486 |
HLI | rs775145486 |
Exac | rs775145486 |
Gnomad | rs775145486 |
Varsome | rs775145486 |
LitVar | rs775145486 |
Map | rs775145486 |
PheGenI | rs775145486 |
Biobank | rs775145486 |
1000 genomes | rs775145486 |
hgdp | rs775145486 |
ensembl | rs775145486 |
geneview | rs775145486 |
scholar | rs775145486 |
rs775145486 | |
pharmgkb | rs775145486 |
gwascentral | rs775145486 |
openSNP | rs775145486 |
23andMe | rs775145486 |
SNPshot | rs775145486 |
SNPdbe | rs775145486 |
MSV3d | rs775145486 |
GWAS Ctlg | rs775145486 |
Max Magnitude | 0 |
rs775145486, also known as c.524C>G, S175C or Ser175Cys, is a SNP in the presenilin 2 PSEN2 gene.
Reported in the AlzForum database as pathogenic for Alzheimer's disease, based on the 2010 publication [PMID 20164579].
Note that the 23andMe name for this mutation is i5047676.