rs63751287
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 8.8 | Alzheimer's disease, early-onset (reported) |
Make rs63751287(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 73192792 |
Gene | PSEN1 |
is a | snp |
is | mentioned by |
dbSNP | rs63751287 |
dbSNP (classic) | rs63751287 |
ClinGen | rs63751287 |
ebi | rs63751287 |
HLI | rs63751287 |
Exac | rs63751287 |
Gnomad | rs63751287 |
Varsome | rs63751287 |
LitVar | rs63751287 |
Map | rs63751287 |
PheGenI | rs63751287 |
Biobank | rs63751287 |
1000 genomes | rs63751287 |
hgdp | rs63751287 |
ensembl | rs63751287 |
geneview | rs63751287 |
scholar | rs63751287 |
rs63751287 | |
pharmgkb | rs63751287 |
gwascentral | rs63751287 |
openSNP | rs63751287 |
23andMe | rs63751287 |
SNPshot | rs63751287 |
SNPdbe | rs63751287 |
MSV3d | rs63751287 |
GWAS Ctlg | rs63751287 |
Max Magnitude | 8.8 |
ClinVar | |
---|---|
Risk | rs63751287(G;G) rs63751287(T;T) |
Alt | rs63751287(G;G) rs63751287(T;T) |
Reference | Rs63751287(A;A) |
Significance | Pathogenic |
Disease | Alzheimer disease not provided |
Variation | info |
Gene | PSEN1 |
CLNDBN | Alzheimer disease, type 3 not provided |
Reversed | 0 |
HGVS | NC_000014.8:g.73659500A>G; NC_000014.8:g.73659500A>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000020086.1, RCV000084354.1, |