rs1008240677
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 8 |
Position | 63086009 |
Gene | TTPA |
is a | snp |
is | mentioned by |
dbSNP | rs1008240677 |
dbSNP (classic) | rs1008240677 |
ClinGen | rs1008240677 |
ebi | rs1008240677 |
HLI | rs1008240677 |
Exac | rs1008240677 |
Gnomad | rs1008240677 |
Varsome | rs1008240677 |
LitVar | rs1008240677 |
Map | rs1008240677 |
PheGenI | rs1008240677 |
Biobank | rs1008240677 |
1000 genomes | rs1008240677 |
hgdp | rs1008240677 |
ensembl | rs1008240677 |
geneview | rs1008240677 |
scholar | rs1008240677 |
rs1008240677 | |
pharmgkb | rs1008240677 |
gwascentral | rs1008240677 |
openSNP | rs1008240677 |
23andMe | rs1008240677 |
SNPshot | rs1008240677 |
SNPdbe | rs1008240677 |
MSV3d | rs1008240677 |
GWAS Ctlg | rs1008240677 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1008240677(A;A) |
Alt | rs1008240677(A;A) |
Reference | Rs1008240677(G;G) |
Significance | Probable-Pathogenic |
Disease | Ataxia with vitamin E deficiency |
Variation | info |
Gene | |
CLNDBN | Ataxia with vitamin E deficiency |
Reversed | 0 |
HGVS | NC_000008.10:g.63998568G>A |
CLNSRC | |
CLNACC | RCV000410811.1, |