rs63750418
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 8.8 | Alzheimer's disease, early-onset (reported) |
(T;T) | 0 | common/normal |
Make rs63750418(C;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 14 |
Position | 73186877 |
Gene | PSEN1 |
is a | snp |
is | mentioned by |
dbSNP | rs63750418 |
dbSNP (classic) | rs63750418 |
ClinGen | rs63750418 |
ebi | rs63750418 |
HLI | rs63750418 |
Exac | rs63750418 |
Gnomad | rs63750418 |
Varsome | rs63750418 |
LitVar | rs63750418 |
Map | rs63750418 |
PheGenI | rs63750418 |
Biobank | rs63750418 |
1000 genomes | rs63750418 |
hgdp | rs63750418 |
ensembl | rs63750418 |
geneview | rs63750418 |
scholar | rs63750418 |
rs63750418 | |
pharmgkb | rs63750418 |
gwascentral | rs63750418 |
openSNP | rs63750418 |
23andMe | rs63750418 |
SNPshot | rs63750418 |
SNPdbe | rs63750418 |
MSV3d | rs63750418 |
GWAS Ctlg | rs63750418 |
Max Magnitude | 8.8 |
c.505T>C (p.Ser169Pro)
See AlzForum
ClinVar | |
---|---|
Risk | rs63750418(C;C) |
Alt | rs63750418(C;C) |
Reference | Rs63750418(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | PSEN1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000014.8:g.73653585T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000084324.1, |