rs28936380
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 9 | early-onset Alzheimer's disease |
Make rs28936380(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 226885546 |
Gene | PSEN2 |
is a | snp |
is | mentioned by |
dbSNP | rs28936380 |
dbSNP (classic) | rs28936380 |
ClinGen | rs28936380 |
ebi | rs28936380 |
HLI | rs28936380 |
Exac | rs28936380 |
Gnomad | rs28936380 |
Varsome | rs28936380 |
LitVar | rs28936380 |
Map | rs28936380 |
PheGenI | rs28936380 |
Biobank | rs28936380 |
1000 genomes | rs28936380 |
hgdp | rs28936380 |
ensembl | rs28936380 |
geneview | rs28936380 |
scholar | rs28936380 |
rs28936380 | |
pharmgkb | rs28936380 |
gwascentral | rs28936380 |
openSNP | rs28936380 |
23andMe | rs28936380 |
SNPshot | rs28936380 |
SNPdbe | rs28936380 |
MSV3d | rs28936380 |
GWAS Ctlg | rs28936380 |
Merged from | Rs137852703 |
Max Magnitude | 9 |
rs28936380, also known as T122R or Thr122Arg, is a SNP in the presenilin 2 PSEN2 gene.
Inherited as an autosomal dominant, the rare rs28936380(G) allele is considered causative for early-onset Alzheimer's disease.[PMID 14681895]
23andMe calls this i5007545
ClinVar | |
---|---|
Risk | rs28936380(G;G) rs28936380(T;T) |
Alt | rs28936380(G;G) rs28936380(T;T) |
Reference | Rs28936380(C;C) |
Significance | Pathogenic |
Disease | Alzheimer disease not provided |
Variation | info |
Gene | PSEN2 |
CLNDBN | Alzheimer disease, type 4 not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.227073247C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009399.5, RCV000084579.1, |