rs63751273
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs63751273(C;T) |
Make rs63751273(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 46010389 |
Gene | MAPT |
is a | snp |
is | mentioned by |
dbSNP | rs63751273 |
dbSNP (classic) | rs63751273 |
ClinGen | rs63751273 |
ebi | rs63751273 |
HLI | rs63751273 |
Exac | rs63751273 |
Gnomad | rs63751273 |
Varsome | rs63751273 |
LitVar | rs63751273 |
Map | rs63751273 |
PheGenI | rs63751273 |
Biobank | rs63751273 |
1000 genomes | rs63751273 |
hgdp | rs63751273 |
ensembl | rs63751273 |
geneview | rs63751273 |
scholar | rs63751273 |
rs63751273 | |
pharmgkb | rs63751273 |
gwascentral | rs63751273 |
openSNP | rs63751273 |
23andMe | rs63751273 |
SNPshot | rs63751273 |
SNPdbe | rs63751273 |
MSV3d | rs63751273 |
GWAS Ctlg | rs63751273 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63751273(T;T) |
Alt | rs63751273(T;T) |
Reference | Rs63751273(C;C) |
Significance | Pathogenic |
Disease | Frontotemporal dementia Progressive supranuclear ophthalmoplegia not provided |
Variation | info |
Gene | MAPT |
CLNDBN | Frontotemporal dementia Progressive supranuclear ophthalmoplegia not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.44087755C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015313.25, RCV000015314.25, RCV000084527.1, |