rs35916840
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs35916840(C;T) |
Make rs35916840(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 63064208 |
Gene | TTPA |
is a | snp |
is | mentioned by |
dbSNP | rs35916840 |
dbSNP (classic) | rs35916840 |
ClinGen | rs35916840 |
ebi | rs35916840 |
HLI | rs35916840 |
Exac | rs35916840 |
Gnomad | rs35916840 |
Varsome | rs35916840 |
LitVar | rs35916840 |
Map | rs35916840 |
PheGenI | rs35916840 |
Biobank | rs35916840 |
1000 genomes | rs35916840 |
hgdp | rs35916840 |
ensembl | rs35916840 |
geneview | rs35916840 |
scholar | rs35916840 |
rs35916840 | |
pharmgkb | rs35916840 |
gwascentral | rs35916840 |
openSNP | rs35916840 |
23andMe | rs35916840 |
SNPshot | rs35916840 |
SNPdbe | rs35916840 |
MSV3d | rs35916840 |
GWAS Ctlg | rs35916840 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35916840(T;T) |
Alt | rs35916840(T;T) |
Reference | Rs35916840(C;C) |
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.63976767G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000055804.1, |