rs28934596
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 3 | Carrier of a hemochromatosis variant |
(T;T) | 0 | common in clinvar |
Make rs28934596(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 26091078 |
Gene | HFE, LOC108783645 |
is a | snp |
is | mentioned by |
dbSNP | rs28934596 |
dbSNP (classic) | rs28934596 |
ClinGen | rs28934596 |
ebi | rs28934596 |
HLI | rs28934596 |
Exac | rs28934596 |
Gnomad | rs28934596 |
Varsome | rs28934596 |
LitVar | rs28934596 |
Map | rs28934596 |
PheGenI | rs28934596 |
Biobank | rs28934596 |
1000 genomes | rs28934596 |
hgdp | rs28934596 |
ensembl | rs28934596 |
geneview | rs28934596 |
scholar | rs28934596 |
rs28934596 | |
pharmgkb | rs28934596 |
gwascentral | rs28934596 |
openSNP | rs28934596 |
23andMe | rs28934596 |
SNPshot | rs28934596 |
SNPdbe | rs28934596 |
MSV3d | rs28934596 |
GWAS Ctlg | rs28934596 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs28934596(C;C) |
Alt | rs28934596(C;C) |
Reference | Rs28934596(T;T) |
Significance | Pathogenic |
Disease | Hemochromatosis type 1 |
Variation | info |
Gene | HFE |
CLNDBN | Hemochromatosis type 1 |
Reversed | 0 |
HGVS | NC_000006.11:g.26091306T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000029.4, |