rs121918677
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121918677(A;A) |
Make rs121918677(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 133777188 |
Gene | TF |
is a | snp |
is | mentioned by |
dbSNP | rs121918677 |
dbSNP (classic) | rs121918677 |
ClinGen | rs121918677 |
ebi | rs121918677 |
HLI | rs121918677 |
Exac | rs121918677 |
Gnomad | rs121918677 |
Varsome | rs121918677 |
LitVar | rs121918677 |
Map | rs121918677 |
PheGenI | rs121918677 |
Biobank | rs121918677 |
1000 genomes | rs121918677 |
hgdp | rs121918677 |
ensembl | rs121918677 |
geneview | rs121918677 |
scholar | rs121918677 |
rs121918677 | |
pharmgkb | rs121918677 |
gwascentral | rs121918677 |
openSNP | rs121918677 |
23andMe | rs121918677 |
SNPshot | rs121918677 |
SNPdbe | rs121918677 |
MSV3d | rs121918677 |
GWAS Ctlg | rs121918677 |
GMAF | 0.003214 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918677(A;A) rs121918677(T;T) |
Alt | rs121918677(A;A) rs121918677(T;T) |
Reference | Rs121918677(G;G) |
Significance | Pathogenic |
Disease | Transferrin variant b2 |
Variation | info |
Gene | TF |
CLNDBN | Transferrin variant b2 |
Reversed | 0 |
HGVS | NC_000003.11:g.133496032G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013450.23, |