rs1057518919
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1057518919(G;G) |
Make rs1057518919(G;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 14 |
Position | 73171023 |
Gene | PSEN1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057518919 |
dbSNP (classic) | rs1057518919 |
ClinGen | rs1057518919 |
ebi | rs1057518919 |
HLI | rs1057518919 |
Exac | rs1057518919 |
Gnomad | rs1057518919 |
Varsome | rs1057518919 |
LitVar | rs1057518919 |
Map | rs1057518919 |
PheGenI | rs1057518919 |
Biobank | rs1057518919 |
1000 genomes | rs1057518919 |
hgdp | rs1057518919 |
ensembl | rs1057518919 |
geneview | rs1057518919 |
scholar | rs1057518919 |
rs1057518919 | |
pharmgkb | rs1057518919 |
gwascentral | rs1057518919 |
openSNP | rs1057518919 |
23andMe | rs1057518919 |
SNPshot | rs1057518919 |
SNPdbe | rs1057518919 |
MSV3d | rs1057518919 |
GWAS Ctlg | rs1057518919 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518919(G;G) |
Alt | rs1057518919(G;G) |
Reference | Rs1057518919(T;T) |
Significance | Pathogenic |
Disease | Dementia Mental deterioration |
Variation | info |
Gene | PSEN1 |
CLNDBN | Dementia Mental deterioration |
Reversed | 0 |
HGVS | NC_000014.8:g.73637731T>G |
CLNSRC | |
CLNACC | RCV000415024.1, |