rs143010236
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs143010236(C;T) |
Make rs143010236(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 63072935 |
Gene | TTPA |
is a | snp |
is | mentioned by |
dbSNP | rs143010236 |
dbSNP (classic) | rs143010236 |
ClinGen | rs143010236 |
ebi | rs143010236 |
HLI | rs143010236 |
Exac | rs143010236 |
Gnomad | rs143010236 |
Varsome | rs143010236 |
LitVar | rs143010236 |
Map | rs143010236 |
PheGenI | rs143010236 |
Biobank | rs143010236 |
1000 genomes | rs143010236 |
hgdp | rs143010236 |
ensembl | rs143010236 |
geneview | rs143010236 |
scholar | rs143010236 |
rs143010236 | |
pharmgkb | rs143010236 |
gwascentral | rs143010236 |
openSNP | rs143010236 |
23andMe | rs143010236 |
SNPshot | rs143010236 |
SNPdbe | rs143010236 |
MSV3d | rs143010236 |
GWAS Ctlg | rs143010236 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs143010236(T;T) |
Alt | rs143010236(T;T) |
Reference | Rs143010236(C;C) |
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.63985494C>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000055796.1, |