rs606231289
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs606231289(C;C) |
Make rs606231289(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 3144599 |
Gene | TRNT1 |
is a | snp |
is | mentioned by |
dbSNP | rs606231289 |
dbSNP (classic) | rs606231289 |
ClinGen | rs606231289 |
ebi | rs606231289 |
HLI | rs606231289 |
Exac | rs606231289 |
Gnomad | rs606231289 |
Varsome | rs606231289 |
LitVar | rs606231289 |
Map | rs606231289 |
PheGenI | rs606231289 |
Biobank | rs606231289 |
1000 genomes | rs606231289 |
hgdp | rs606231289 |
ensembl | rs606231289 |
geneview | rs606231289 |
scholar | rs606231289 |
rs606231289 | |
pharmgkb | rs606231289 |
gwascentral | rs606231289 |
openSNP | rs606231289 |
23andMe | rs606231289 |
SNPshot | rs606231289 |
SNPdbe | rs606231289 |
MSV3d | rs606231289 |
GWAS Ctlg | rs606231289 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231289(C;C) |
Alt | rs606231289(C;C) |
Reference | Rs606231289(T;T) |
Significance | Pathogenic |
Disease | Sideroblastic anemia with B-cell immunodeficiency |
Variation | info |
Gene | TRNT1 |
CLNDBN | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay |
Reversed | 0 |
HGVS | NC_000003.11:g.3186283T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000144949.4, |