rs11405
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs11405(C;C) |
Make rs11405(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 226881976 |
Gene | PSEN2 |
is a | snp |
is | mentioned by |
dbSNP | rs11405 |
dbSNP (classic) | rs11405 |
ClinGen | rs11405 |
ebi | rs11405 |
HLI | rs11405 |
Exac | rs11405 |
Gnomad | rs11405 |
Varsome | rs11405 |
LitVar | rs11405 |
Map | rs11405 |
PheGenI | rs11405 |
Biobank | rs11405 |
1000 genomes | rs11405 |
hgdp | rs11405 |
ensembl | rs11405 |
geneview | rs11405 |
scholar | rs11405 |
rs11405 | |
pharmgkb | rs11405 |
gwascentral | rs11405 |
openSNP | rs11405 |
23andMe | rs11405 |
SNPshot | rs11405 |
SNPdbe | rs11405 |
MSV3d | rs11405 |
GWAS Ctlg | rs11405 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
A SNP in the presenilin gene PSEN2.
ClinVar | |
---|---|
Risk | rs11405(C;C) |
Alt | rs11405(C;C) |
Reference | Rs11405(T;T) |
Significance | Probable-non-pathogenic |
Disease | not specified Dilated Cardiomyopathy Early-Onset Familial Alzheimer Disease |
Variation | info |
Gene | PSEN2 |
CLNDBN | not specified Dilated Cardiomyopathy, Dominant Early-Onset Familial Alzheimer Disease |
Reversed | 0 |
HGVS | NC_000001.10:g.227069677T>C |
CLNSRC | |
CLNACC | RCV000248412.1, RCV000286903.1, RCV000372045.1, |