rs886040964
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs886040964(A;A) |
Make rs886040964(A;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 8 |
Position | 63065902 |
Gene | TTPA |
is a | snp |
is | mentioned by |
dbSNP | rs886040964 |
dbSNP (classic) | rs886040964 |
ClinGen | rs886040964 |
ebi | rs886040964 |
HLI | rs886040964 |
Exac | rs886040964 |
Gnomad | rs886040964 |
Varsome | rs886040964 |
LitVar | rs886040964 |
Map | rs886040964 |
PheGenI | rs886040964 |
Biobank | rs886040964 |
1000 genomes | rs886040964 |
hgdp | rs886040964 |
ensembl | rs886040964 |
geneview | rs886040964 |
scholar | rs886040964 |
rs886040964 | |
pharmgkb | rs886040964 |
gwascentral | rs886040964 |
openSNP | rs886040964 |
23andMe | rs886040964 |
SNPshot | rs886040964 |
SNPdbe | rs886040964 |
MSV3d | rs886040964 |
GWAS Ctlg | rs886040964 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886040964(A;A) |
Alt | rs886040964(A;A) |
Reference | Rs886040964(T;T) |
Significance | Pathogenic |
Disease | Ataxia with vitamin E deficiency |
Variation | info |
Gene | TTPA |
CLNDBN | Ataxia with vitamin E deficiency |
Reversed | 1 |
HGVS | NC_000008.10:g.63978461A>T |
CLNSRC | |
CLNACC | RCV000258018.1, |