rs2075674
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs2075674(C;T) |
Make rs2075674(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 100627408 |
Gene | TFR2 |
is a | snp |
is | mentioned by |
dbSNP | rs2075674 |
dbSNP (classic) | rs2075674 |
ClinGen | rs2075674 |
ebi | rs2075674 |
HLI | rs2075674 |
Exac | rs2075674 |
Gnomad | rs2075674 |
Varsome | rs2075674 |
LitVar | rs2075674 |
Map | rs2075674 |
PheGenI | rs2075674 |
Biobank | rs2075674 |
1000 genomes | rs2075674 |
hgdp | rs2075674 |
ensembl | rs2075674 |
geneview | rs2075674 |
scholar | rs2075674 |
rs2075674 | |
pharmgkb | rs2075674 |
gwascentral | rs2075674 |
openSNP | rs2075674 |
23andMe | rs2075674 |
SNPshot | rs2075674 |
SNPdbe | rs2075674 |
MSV3d | rs2075674 |
GWAS Ctlg | rs2075674 |
GMAF | 0.1538 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 23751596] Association between genetic variations in TFR2 gene and coronary heart disease in Chinese: a case-control study
ClinVar | |
---|---|
Risk | rs2075674(T;T) |
Alt | rs2075674(T;T) |
Reference | Rs2075674(C;C) |
Significance | Non-pathogenic |
Disease | Hemochromatosis type 3 not specified Hereditary hemochromatosis |
Variation | info |
Gene | TFR2 |
CLNDBN | Hemochromatosis type 3 not specified Hereditary hemochromatosis |
Reversed | 1 |
HGVS | NC_000007.13:g.100225031G>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020542.1, RCV000248610.1, RCV000355274.1, |
[PMID 11102989] Molecular analysis of the TFR2 gene: report of a novel polymorphism (1878C>T).