rs8383
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | |
(C;T) | ||
(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 226895849 |
Gene | PSEN2 |
is a | snp |
is | mentioned by |
dbSNP | rs8383 |
dbSNP (classic) | rs8383 |
ClinGen | rs8383 |
ebi | rs8383 |
HLI | rs8383 |
Exac | rs8383 |
Gnomad | rs8383 |
Varsome | rs8383 |
LitVar | rs8383 |
Map | rs8383 |
PheGenI | rs8383 |
Biobank | rs8383 |
1000 genomes | rs8383 |
hgdp | rs8383 |
ensembl | rs8383 |
geneview | rs8383 |
scholar | rs8383 |
rs8383 | |
pharmgkb | rs8383 |
gwascentral | rs8383 |
openSNP | rs8383 |
23andMe | rs8383 |
SNPshot | rs8383 |
SNPdbe | rs8383 |
MSV3d | rs8383 |
GWAS Ctlg | rs8383 |
GMAF | 0.489 |
Max Magnitude | 0 |
[PMID 22580083] Presenilin-2 polymorphisms and risk of sporadic AD: Evidence from a meta-analysis
[PMID 19232479] Does the presenilin 2 gene predispose to schizophrenia?
ClinVar | |
---|---|
Risk | Rs8383(T;T) |
Alt | Rs8383(T;T) |
Reference | Rs8383(C;C) |
Significance | Probable-non-pathogenic |
Disease | Early-Onset Familial Alzheimer Disease Dilated Cardiomyopathy |
Variation | info |
Gene | ADCK3 PSEN2 |
CLNDBN | Early-Onset Familial Alzheimer Disease Dilated Cardiomyopathy, Dominant |
Reversed | 0 |
HGVS | NC_000001.10:g.227083550C>T |
CLNSRC | |
CLNACC | RCV000331661.1, RCV000386193.1, |