rs181109321
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs181109321(C;T) |
Make rs181109321(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 8 |
Position | 63065904 |
Gene | TTPA |
is a | snp |
is | mentioned by |
dbSNP | rs181109321 |
dbSNP (classic) | rs181109321 |
ClinGen | rs181109321 |
ebi | rs181109321 |
HLI | rs181109321 |
Exac | rs181109321 |
Gnomad | rs181109321 |
Varsome | rs181109321 |
LitVar | rs181109321 |
Map | rs181109321 |
PheGenI | rs181109321 |
Biobank | rs181109321 |
1000 genomes | rs181109321 |
hgdp | rs181109321 |
ensembl | rs181109321 |
geneview | rs181109321 |
scholar | rs181109321 |
rs181109321 | |
pharmgkb | rs181109321 |
gwascentral | rs181109321 |
openSNP | rs181109321 |
23andMe | rs181109321 |
SNPshot | rs181109321 |
SNPdbe | rs181109321 |
MSV3d | rs181109321 |
GWAS Ctlg | rs181109321 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs181109321(T;T) |
Alt | rs181109321(T;T) |
Reference | Rs181109321(C;C) |
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.63978463C>T |
CLNSRC | |
CLNACC | RCV000415204.1, |