rs773139494
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs773139494(A;A) |
Make rs773139494(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 133775570 |
Gene | TF |
is a | snp |
is | mentioned by |
dbSNP | rs773139494 |
dbSNP (classic) | rs773139494 |
ClinGen | rs773139494 |
ebi | rs773139494 |
HLI | rs773139494 |
Exac | rs773139494 |
Gnomad | rs773139494 |
Varsome | rs773139494 |
LitVar | rs773139494 |
Map | rs773139494 |
PheGenI | rs773139494 |
Biobank | rs773139494 |
1000 genomes | rs773139494 |
hgdp | rs773139494 |
ensembl | rs773139494 |
geneview | rs773139494 |
scholar | rs773139494 |
rs773139494 | |
pharmgkb | rs773139494 |
gwascentral | rs773139494 |
openSNP | rs773139494 |
23andMe | rs773139494 |
SNPshot | rs773139494 |
SNPdbe | rs773139494 |
MSV3d | rs773139494 |
GWAS Ctlg | rs773139494 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs773139494(A;A) rs773139494(T;T) |
Alt | rs773139494(A;A) rs773139494(T;T) |
Reference | Rs773139494(C;C) |
Significance | Probable-Pathogenic |
Disease | Atransferrinemia |
Variation | info |
Gene | TF |
CLNDBN | Atransferrinemia |
Reversed | 0 |
HGVS | NC_000003.11:g.133494414C>T |
CLNSRC | |
CLNACC | RCV000202418.1, |