rs797045145
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a hemochromatosis variant |
(G;G) | 0 | common in clinvar |
Make rs797045145(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 26091479 |
Gene | HFE, LOC108783645 |
is a | snp |
is | mentioned by |
dbSNP | rs797045145 |
dbSNP (classic) | rs797045145 |
ClinGen | rs797045145 |
ebi | rs797045145 |
HLI | rs797045145 |
Exac | rs797045145 |
Gnomad | rs797045145 |
Varsome | rs797045145 |
LitVar | rs797045145 |
Map | rs797045145 |
PheGenI | rs797045145 |
Biobank | rs797045145 |
1000 genomes | rs797045145 |
hgdp | rs797045145 |
ensembl | rs797045145 |
geneview | rs797045145 |
scholar | rs797045145 |
rs797045145 | |
pharmgkb | rs797045145 |
gwascentral | rs797045145 |
openSNP | rs797045145 |
23andMe | rs797045145 |
SNPshot | rs797045145 |
SNPdbe | rs797045145 |
MSV3d | rs797045145 |
GWAS Ctlg | rs797045145 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs797045145(A;A) |
Alt | rs797045145(A;A) |
Reference | Rs797045145(G;G) |
Significance | Pathogenic |
Disease | Hemochromatosis type 1 |
Variation | info |
Gene | HFE |
CLNDBN | Hemochromatosis type 1 |
Reversed | 0 |
HGVS | NC_000006.11:g.26091707G>A |
CLNSRC | |
CLNACC | RCV000190907.1, |