rs758349851
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs758349851(C;C) |
Make rs758349851(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 8 |
Position | 63073090 |
Gene | TTPA |
is a | snp |
is | mentioned by |
dbSNP | rs758349851 |
dbSNP (classic) | rs758349851 |
ClinGen | rs758349851 |
ebi | rs758349851 |
HLI | rs758349851 |
Exac | rs758349851 |
Gnomad | rs758349851 |
Varsome | rs758349851 |
LitVar | rs758349851 |
Map | rs758349851 |
PheGenI | rs758349851 |
Biobank | rs758349851 |
1000 genomes | rs758349851 |
hgdp | rs758349851 |
ensembl | rs758349851 |
geneview | rs758349851 |
scholar | rs758349851 |
rs758349851 | |
pharmgkb | rs758349851 |
gwascentral | rs758349851 |
openSNP | rs758349851 |
23andMe | rs758349851 |
SNPshot | rs758349851 |
SNPdbe | rs758349851 |
MSV3d | rs758349851 |
GWAS Ctlg | rs758349851 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758349851(C;C) |
Alt | rs758349851(C;C) |
Reference | Rs758349851(T;T) |
Significance | Probable-Pathogenic |
Disease | Ataxia with vitamin E deficiency |
Variation | info |
Gene | TTPA |
CLNDBN | Ataxia with vitamin E deficiency |
Reversed | 0 |
HGVS | NC_000008.10:g.63985649T>C |
CLNSRC | |
CLNACC | RCV000412004.1, |