rs886040963
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs886040963(G;T) |
Make rs886040963(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 8 |
Position | 63073089 |
Gene | TTPA |
is a | snp |
is | mentioned by |
dbSNP | rs886040963 |
dbSNP (classic) | rs886040963 |
ClinGen | rs886040963 |
ebi | rs886040963 |
HLI | rs886040963 |
Exac | rs886040963 |
Gnomad | rs886040963 |
Varsome | rs886040963 |
LitVar | rs886040963 |
Map | rs886040963 |
PheGenI | rs886040963 |
Biobank | rs886040963 |
1000 genomes | rs886040963 |
hgdp | rs886040963 |
ensembl | rs886040963 |
geneview | rs886040963 |
scholar | rs886040963 |
rs886040963 | |
pharmgkb | rs886040963 |
gwascentral | rs886040963 |
openSNP | rs886040963 |
23andMe | rs886040963 |
SNPshot | rs886040963 |
SNPdbe | rs886040963 |
MSV3d | rs886040963 |
GWAS Ctlg | rs886040963 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886040963(C;C) rs886040963(T;T) |
Alt | rs886040963(C;C) rs886040963(T;T) |
Reference | Rs886040963(G;G) |
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.63985648C>A; NC_000008.10:g.63985648C>G |
CLNSRC | |
CLNACC | RCV000258013.1, RCV000411832.1, |