rs765804978
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CC) | 3 | Carrier of a hemochromatosis variant |
(CC;CC) | 0 | common in clinvar |
Make rs765804978(-;-) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 26091519 |
Gene | HFE, LOC108783645 |
is a | snp |
is | mentioned by |
dbSNP | rs765804978 |
dbSNP (classic) | rs765804978 |
ClinGen | rs765804978 |
ebi | rs765804978 |
HLI | rs765804978 |
Exac | rs765804978 |
Gnomad | rs765804978 |
Varsome | rs765804978 |
LitVar | rs765804978 |
Map | rs765804978 |
PheGenI | rs765804978 |
Biobank | rs765804978 |
1000 genomes | rs765804978 |
hgdp | rs765804978 |
ensembl | rs765804978 |
geneview | rs765804978 |
scholar | rs765804978 |
rs765804978 | |
pharmgkb | rs765804978 |
gwascentral | rs765804978 |
openSNP | rs765804978 |
23andMe | rs765804978 |
SNPshot | rs765804978 |
SNPdbe | rs765804978 |
MSV3d | rs765804978 |
GWAS Ctlg | rs765804978 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs765804978(-;-) |
Alt | rs765804978(-;-) |
Reference | Rs765804978(CC;CC) |
Significance | Pathogenic |
Disease | Hemochromatosis type 1 |
Variation | info |
Gene | HFE |
CLNDBN | Hemochromatosis type 1 |
Reversed | 0 |
HGVS | NC_000006.11:g.26091747_26091748delCC |
CLNSRC | |
CLNACC | RCV000477411.1, |