rs41295774
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs41295774(A;G) |
Make rs41295774(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 133757854 |
Gene | TF |
is a | snp |
is | mentioned by |
dbSNP | rs41295774 |
dbSNP (classic) | rs41295774 |
ClinGen | rs41295774 |
ebi | rs41295774 |
HLI | rs41295774 |
Exac | rs41295774 |
Gnomad | rs41295774 |
Varsome | rs41295774 |
LitVar | rs41295774 |
Map | rs41295774 |
PheGenI | rs41295774 |
Biobank | rs41295774 |
1000 genomes | rs41295774 |
hgdp | rs41295774 |
ensembl | rs41295774 |
geneview | rs41295774 |
scholar | rs41295774 |
rs41295774 | |
pharmgkb | rs41295774 |
gwascentral | rs41295774 |
openSNP | rs41295774 |
23andMe | rs41295774 |
SNPshot | rs41295774 |
SNPdbe | rs41295774 |
MSV3d | rs41295774 |
GWAS Ctlg | rs41295774 |
GMAF | 0.00551 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs41295774(G;G) |
Alt | rs41295774(G;G) |
Reference | Rs41295774(A;A) |
Significance | Pathogenic |
Disease | Transferrin variant chi Atransferrinemia |
Variation | info |
Gene | TF |
CLNDBN | Transferrin variant chi Atransferrinemia |
Reversed | 0 |
HGVS | NC_000003.11:g.133476698A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013449.24, RCV000390823.1, |