rs28939076
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28939076(A;A) |
Make rs28939076(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 189575202 |
Gene | SLC40A1 |
is a | snp |
is | mentioned by |
dbSNP | rs28939076 |
dbSNP (classic) | rs28939076 |
ClinGen | rs28939076 |
ebi | rs28939076 |
HLI | rs28939076 |
Exac | rs28939076 |
Gnomad | rs28939076 |
Varsome | rs28939076 |
LitVar | rs28939076 |
Map | rs28939076 |
PheGenI | rs28939076 |
Biobank | rs28939076 |
1000 genomes | rs28939076 |
hgdp | rs28939076 |
ensembl | rs28939076 |
geneview | rs28939076 |
scholar | rs28939076 |
rs28939076 | |
pharmgkb | rs28939076 |
gwascentral | rs28939076 |
openSNP | rs28939076 |
23andMe | rs28939076 |
SNPshot | rs28939076 |
SNPdbe | rs28939076 |
MSV3d | rs28939076 |
GWAS Ctlg | rs28939076 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28939076(A;A) |
Alt | rs28939076(A;A) |
Reference | Rs28939076(C;C) |
Significance | Pathogenic |
Disease | Hemochromatosis type 4 |
Variation | info |
Gene | SLC40A1 |
CLNDBN | Hemochromatosis type 4 |
Reversed | 1 |
HGVS | NC_000002.11:g.190439928G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005744.2, |