rs368420430
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs368420430(A;A) |
Make rs368420430(A;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 189564177 |
Gene | SLC40A1 |
is a | snp |
is | mentioned by |
dbSNP | rs368420430 |
dbSNP (classic) | rs368420430 |
ClinGen | rs368420430 |
ebi | rs368420430 |
HLI | rs368420430 |
Exac | rs368420430 |
Gnomad | rs368420430 |
Varsome | rs368420430 |
LitVar | rs368420430 |
Map | rs368420430 |
PheGenI | rs368420430 |
Biobank | rs368420430 |
1000 genomes | rs368420430 |
hgdp | rs368420430 |
ensembl | rs368420430 |
geneview | rs368420430 |
scholar | rs368420430 |
rs368420430 | |
pharmgkb | rs368420430 |
gwascentral | rs368420430 |
openSNP | rs368420430 |
23andMe | rs368420430 |
SNPshot | rs368420430 |
SNPdbe | rs368420430 |
MSV3d | rs368420430 |
GWAS Ctlg | rs368420430 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs368420430(A;A) rs368420430(G;G) |
Alt | rs368420430(A;A) rs368420430(G;G) |
Reference | Rs368420430(T;T) |
Significance | Pathogenic |
Disease | Hemochromatosis type 4 |
Variation | info |
Gene | SLC40A1 |
CLNDBN | Hemochromatosis type 4 |
Reversed | 0 |
HGVS | NC_000002.11:g.190428903T>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000190909.1, |