rs104893662
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs104893662(A;C) |
Make rs104893662(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 189571799 |
Gene | SLC40A1 |
is a | snp |
is | mentioned by |
dbSNP | rs104893662 |
dbSNP (classic) | rs104893662 |
ClinGen | rs104893662 |
ebi | rs104893662 |
HLI | rs104893662 |
Exac | rs104893662 |
Gnomad | rs104893662 |
Varsome | rs104893662 |
LitVar | rs104893662 |
Map | rs104893662 |
PheGenI | rs104893662 |
Biobank | rs104893662 |
1000 genomes | rs104893662 |
hgdp | rs104893662 |
ensembl | rs104893662 |
geneview | rs104893662 |
scholar | rs104893662 |
rs104893662 | |
pharmgkb | rs104893662 |
gwascentral | rs104893662 |
openSNP | rs104893662 |
23andMe | rs104893662 |
SNPshot | rs104893662 |
SNPdbe | rs104893662 |
MSV3d | rs104893662 |
GWAS Ctlg | rs104893662 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893662(C;C) rs104893662(T;T) |
Alt | rs104893662(C;C) rs104893662(T;T) |
Reference | Rs104893662(A;A) |
Significance | Pathogenic |
Disease | Hemochromatosis type 4 |
Variation | info |
Gene | SLC40A1 |
CLNDBN | Hemochromatosis type 4 |
Reversed | 1 |
HGVS | NC_000002.11:g.190436525T>A; NC_000002.11:g.190436525T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000234752.1, RCV000005743.2, |