rs760014795
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs760014795(-;-) |
Make rs760014795(-;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 8 |
Position | 63086003 |
Gene | TTPA |
is a | snp |
is | mentioned by |
dbSNP | rs760014795 |
dbSNP (classic) | rs760014795 |
ClinGen | rs760014795 |
ebi | rs760014795 |
HLI | rs760014795 |
Exac | rs760014795 |
Gnomad | rs760014795 |
Varsome | rs760014795 |
LitVar | rs760014795 |
Map | rs760014795 |
PheGenI | rs760014795 |
Biobank | rs760014795 |
1000 genomes | rs760014795 |
hgdp | rs760014795 |
ensembl | rs760014795 |
geneview | rs760014795 |
scholar | rs760014795 |
rs760014795 | |
pharmgkb | rs760014795 |
gwascentral | rs760014795 |
openSNP | rs760014795 |
23andMe | rs760014795 |
SNPshot | rs760014795 |
SNPdbe | rs760014795 |
MSV3d | rs760014795 |
GWAS Ctlg | rs760014795 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs760014795(-;-) |
Alt | rs760014795(-;-) |
Reference | Rs760014795(G;G) |
Significance | Pathogenic |
Disease | Ataxia with vitamin E deficiency |
Variation | info |
Gene | TTPA |
CLNDBN | Ataxia with vitamin E deficiency |
Reversed | 0 |
HGVS | NC_000008.10:g.63998562delG |
CLNSRC | |
CLNACC | RCV000190635.1, |