rs121434374
From SNPedia
Orientation | minus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121434374(A;A) |
Make rs121434374(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 146018395 |
Gene | HFE2 |
is a | snp |
is | mentioned by |
dbSNP | rs121434374 |
dbSNP (classic) | rs121434374 |
ClinGen | rs121434374 |
ebi | rs121434374 |
HLI | rs121434374 |
Exac | rs121434374 |
Gnomad | rs121434374 |
Varsome | rs121434374 |
LitVar | rs121434374 |
Map | rs121434374 |
PheGenI | rs121434374 |
Biobank | rs121434374 |
1000 genomes | rs121434374 |
hgdp | rs121434374 |
ensembl | rs121434374 |
geneview | rs121434374 |
scholar | rs121434374 |
rs121434374 | |
pharmgkb | rs121434374 |
gwascentral | rs121434374 |
openSNP | rs121434374 |
23andMe | rs121434374 |
SNPshot | rs121434374 |
SNPdbe | rs121434374 |
MSV3d | rs121434374 |
GWAS Ctlg | rs121434374 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434374(A;A) rs121434374(G;G) |
Alt | rs121434374(A;A) rs121434374(G;G) |
Reference | Rs121434374(C;C) |
Significance | Pathogenic |
Disease | Hemochromatosis type 2A Hemochromatosis type 1 |
Variation | info |
Gene | HFE2 |
CLNDBN | Hemochromatosis type 2A Hemochromatosis type 1 |
Reversed | 0 |
HGVS | NC_000001.10:g.145416618C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002468.5, RCV000002469.5, |