rs146519482
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 3 | Carrier of a hemochromatosis variant |
Make rs146519482(C;C) |
Make rs146519482(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 26091475 |
Gene | HFE, LOC108783645 |
is a | snp |
is | mentioned by |
dbSNP | rs146519482 |
dbSNP (classic) | rs146519482 |
ClinGen | rs146519482 |
ebi | rs146519482 |
HLI | rs146519482 |
Exac | rs146519482 |
Gnomad | rs146519482 |
Varsome | rs146519482 |
LitVar | rs146519482 |
Map | rs146519482 |
PheGenI | rs146519482 |
Biobank | rs146519482 |
1000 genomes | rs146519482 |
hgdp | rs146519482 |
ensembl | rs146519482 |
geneview | rs146519482 |
scholar | rs146519482 |
rs146519482 | |
pharmgkb | rs146519482 |
gwascentral | rs146519482 |
openSNP | rs146519482 |
23andMe | rs146519482 |
SNPshot | rs146519482 |
SNPdbe | rs146519482 |
MSV3d | rs146519482 |
GWAS Ctlg | rs146519482 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs146519482(C;C) rs146519482(T;T) |
Alt | rs146519482(C;C) rs146519482(T;T) |
Reference | Rs146519482(G;G) |
Significance | Pathogenic |
Disease | Hemochromatosis type 1 |
Variation | info |
Gene | HFE |
CLNDBN | Hemochromatosis type 1 |
Reversed | 0 |
HGVS | NC_000006.11:g.26091703G>C; NC_000006.11:g.26091703G>T |
CLNSRC | |
CLNACC | RCV000208047.1, RCV000190906.1, |