rs104894695
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894695(C;T) |
Make rs104894695(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 35284953 |
Gene | HAMP |
is a | snp |
is | mentioned by |
dbSNP | rs104894695 |
dbSNP (classic) | rs104894695 |
ClinGen | rs104894695 |
ebi | rs104894695 |
HLI | rs104894695 |
Exac | rs104894695 |
Gnomad | rs104894695 |
Varsome | rs104894695 |
LitVar | rs104894695 |
Map | rs104894695 |
PheGenI | rs104894695 |
Biobank | rs104894695 |
1000 genomes | rs104894695 |
hgdp | rs104894695 |
ensembl | rs104894695 |
geneview | rs104894695 |
scholar | rs104894695 |
rs104894695 | |
pharmgkb | rs104894695 |
gwascentral | rs104894695 |
openSNP | rs104894695 |
23andMe | rs104894695 |
SNPshot | rs104894695 |
SNPdbe | rs104894695 |
MSV3d | rs104894695 |
GWAS Ctlg | rs104894695 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894695(T;T) |
Alt | rs104894695(T;T) |
Reference | Rs104894695(C;C) |
Significance | Pathogenic |
Disease | Hemochromatosis type 2B |
Variation | info |
Gene | HAMP |
CLNDBN | Hemochromatosis type 2B |
Reversed | 0 |
HGVS | NC_000019.9:g.35775856C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004505.3, |