rs749553271
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 3 | Carrier of a hemochromatosis variant |
Make rs749553271(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 26092960 |
Gene | HFE, LOC108783645 |
is a | snp |
is | mentioned by |
dbSNP | rs749553271 |
dbSNP (classic) | rs749553271 |
ClinGen | rs749553271 |
ebi | rs749553271 |
HLI | rs749553271 |
Exac | rs749553271 |
Gnomad | rs749553271 |
Varsome | rs749553271 |
LitVar | rs749553271 |
Map | rs749553271 |
PheGenI | rs749553271 |
Biobank | rs749553271 |
1000 genomes | rs749553271 |
hgdp | rs749553271 |
ensembl | rs749553271 |
geneview | rs749553271 |
scholar | rs749553271 |
rs749553271 | |
pharmgkb | rs749553271 |
gwascentral | rs749553271 |
openSNP | rs749553271 |
23andMe | rs749553271 |
SNPshot | rs749553271 |
SNPdbe | rs749553271 |
MSV3d | rs749553271 |
GWAS Ctlg | rs749553271 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs749553271(T;T) |
Alt | rs749553271(T;T) |
Reference | Rs749553271(G;G) |
Significance | Pathogenic |
Disease | Hemochromatosis type 1 |
Variation | info |
Gene | HFE |
CLNDBN | Hemochromatosis type 1 |
Reversed | 0 |
HGVS | NC_000006.11:g.26093188G>T |
CLNSRC | |
CLNACC | RCV000472479.1, |