rs1295645
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1295645(C;T) |
Make rs1295645(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 226871336 |
Gene | LOC105373119, PSEN2 |
is a | snp |
is | mentioned by |
dbSNP | rs1295645 |
dbSNP (classic) | rs1295645 |
ClinGen | rs1295645 |
ebi | rs1295645 |
HLI | rs1295645 |
Exac | rs1295645 |
Gnomad | rs1295645 |
Varsome | rs1295645 |
LitVar | rs1295645 |
Map | rs1295645 |
PheGenI | rs1295645 |
Biobank | rs1295645 |
1000 genomes | rs1295645 |
hgdp | rs1295645 |
ensembl | rs1295645 |
geneview | rs1295645 |
scholar | rs1295645 |
rs1295645 | |
pharmgkb | rs1295645 |
gwascentral | rs1295645 |
openSNP | rs1295645 |
23andMe | rs1295645 |
SNPshot | rs1295645 |
SNPdbe | rs1295645 |
MSV3d | rs1295645 |
GWAS Ctlg | rs1295645 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
A SNP in the presenilin gene PSEN2.
ClinVar | |
---|---|
Risk | rs1295645(T;T) |
Alt | rs1295645(T;T) |
Reference | Rs1295645(C;C) |
Significance | Probable-non-pathogenic |
Disease | Early-Onset Familial Alzheimer Disease Dilated Cardiomyopathy |
Variation | info |
Gene | PSEN2 |
CLNDBN | Early-Onset Familial Alzheimer Disease Dilated Cardiomyopathy, Dominant |
Reversed | 0 |
HGVS | NC_000001.10:g.227059037C>T |
CLNSRC | |
CLNACC | RCV000309678.1, RCV000364413.1, |