rs786205063
From SNPedia
Orientation | minus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTCT;CTCT) | 0 | common in clinvar |
(TCTC;TCTC) | 0 | common in clinvar |
Make rs786205063(-;-) |
Make rs786205063(-;TCTC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 146018373 |
Gene | HFE2 |
is a | snp |
is | mentioned by |
dbSNP | rs786205063 |
dbSNP (classic) | rs786205063 |
ClinGen | rs786205063 |
ebi | rs786205063 |
HLI | rs786205063 |
Exac | rs786205063 |
Gnomad | rs786205063 |
Varsome | rs786205063 |
LitVar | rs786205063 |
Map | rs786205063 |
PheGenI | rs786205063 |
Biobank | rs786205063 |
1000 genomes | rs786205063 |
hgdp | rs786205063 |
ensembl | rs786205063 |
geneview | rs786205063 |
scholar | rs786205063 |
rs786205063 | |
pharmgkb | rs786205063 |
gwascentral | rs786205063 |
openSNP | rs786205063 |
23andMe | rs786205063 |
SNPshot | rs786205063 |
SNPdbe | rs786205063 |
MSV3d | rs786205063 |
GWAS Ctlg | rs786205063 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205063(-;-) |
Alt | rs786205063(-;-) |
Reference | Rs786205063(CTCT;CTCT) |
Significance | Pathogenic |
Disease | Hemochromatosis type 2A |
Variation | info |
Gene | HFE2 |
CLNDBN | Hemochromatosis type 2A |
Reversed | 0 |
HGVS | NC_000001.10:g.145416637_145416640delTCTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002470.4, |