rs6759
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs6759(C;T) |
Make rs6759(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 226882036 |
Gene | PSEN2 |
is a | snp |
is | mentioned by |
dbSNP | rs6759 |
dbSNP (classic) | rs6759 |
ClinGen | rs6759 |
ebi | rs6759 |
HLI | rs6759 |
Exac | rs6759 |
Gnomad | rs6759 |
Varsome | rs6759 |
LitVar | rs6759 |
Map | rs6759 |
PheGenI | rs6759 |
Biobank | rs6759 |
1000 genomes | rs6759 |
hgdp | rs6759 |
ensembl | rs6759 |
geneview | rs6759 |
scholar | rs6759 |
rs6759 | |
pharmgkb | rs6759 |
gwascentral | rs6759 |
openSNP | rs6759 |
23andMe | rs6759 |
SNPshot | rs6759 |
SNPdbe | rs6759 |
MSV3d | rs6759 |
GWAS Ctlg | rs6759 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
A SNP in the presenilin gene PSEN2.
ClinVar | |
---|---|
Risk | rs6759(T;T) |
Alt | rs6759(T;T) |
Reference | Rs6759(C;C) |
Significance | Probable-non-pathogenic |
Disease | not specified Early-Onset Familial Alzheimer Disease Dilated Cardiomyopathy |
Variation | info |
Gene | PSEN2 |
CLNDBN | not specified Early-Onset Familial Alzheimer Disease Dilated Cardiomyopathy, Dominant |
Reversed | 0 |
HGVS | NC_000001.10:g.227069737C>T |
CLNSRC | |
CLNACC | RCV000244764.1, RCV000342061.1, RCV000378064.1, |