rs111033558
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs111033558(G;T) |
Make rs111033558(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 26093215 |
Gene | HFE |
is a | snp |
is | mentioned by |
dbSNP | rs111033558 |
dbSNP (classic) | rs111033558 |
ClinGen | rs111033558 |
ebi | rs111033558 |
HLI | rs111033558 |
Exac | rs111033558 |
Gnomad | rs111033558 |
Varsome | rs111033558 |
LitVar | rs111033558 |
Map | rs111033558 |
PheGenI | rs111033558 |
Biobank | rs111033558 |
1000 genomes | rs111033558 |
hgdp | rs111033558 |
ensembl | rs111033558 |
geneview | rs111033558 |
scholar | rs111033558 |
rs111033558 | |
pharmgkb | rs111033558 |
gwascentral | rs111033558 |
openSNP | rs111033558 |
23andMe | rs111033558 |
SNPshot | rs111033558 |
SNPdbe | rs111033558 |
MSV3d | rs111033558 |
GWAS Ctlg | rs111033558 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033558(C;C) rs111033558(T;T) |
Alt | rs111033558(C;C) rs111033558(T;T) |
Reference | Rs111033558(G;G) |
Significance | Pathogenic |
Disease | Hemochromatosis type 1 |
Variation | info |
Gene | HFE |
CLNDBN | Hemochromatosis type 1 |
Reversed | 0 |
HGVS | NC_000006.11:g.26093443G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000035.3, |