rs63750425
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs63750425(C;T) |
Make rs63750425(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 46018675 |
Gene | MAPT |
is a | snp |
is | mentioned by |
dbSNP | rs63750425 |
dbSNP (classic) | rs63750425 |
ClinGen | rs63750425 |
ebi | rs63750425 |
HLI | rs63750425 |
Exac | rs63750425 |
Gnomad | rs63750425 |
Varsome | rs63750425 |
LitVar | rs63750425 |
Map | rs63750425 |
PheGenI | rs63750425 |
Biobank | rs63750425 |
1000 genomes | rs63750425 |
hgdp | rs63750425 |
ensembl | rs63750425 |
geneview | rs63750425 |
scholar | rs63750425 |
rs63750425 | |
pharmgkb | rs63750425 |
gwascentral | rs63750425 |
openSNP | rs63750425 |
23andMe | rs63750425 |
SNPshot | rs63750425 |
SNPdbe | rs63750425 |
MSV3d | rs63750425 |
GWAS Ctlg | rs63750425 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63750425(T;T) |
Alt | rs63750425(T;T) |
Reference | Rs63750425(C;C) |
Significance | Pathogenic |
Disease | Progressive supranuclear ophthalmoplegia not provided |
Variation | info |
Gene | MAPT |
CLNDBN | Progressive supranuclear ophthalmoplegia not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.44096041C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015337.26, RCV000084550.1, |