rs41417446
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(I;I) | 0 | |
(TTT;TTT) | 0 | common in clinvar |
Make rs41417446(-;-) |
Make rs41417446(-;TTT) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 5226763 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs41417446 |
dbSNP (classic) | rs41417446 |
ClinGen | rs41417446 |
ebi | rs41417446 |
HLI | rs41417446 |
Exac | rs41417446 |
Gnomad | rs41417446 |
Varsome | rs41417446 |
LitVar | rs41417446 |
Map | rs41417446 |
PheGenI | rs41417446 |
Biobank | rs41417446 |
1000 genomes | rs41417446 |
hgdp | rs41417446 |
ensembl | rs41417446 |
geneview | rs41417446 |
scholar | rs41417446 |
rs41417446 | |
pharmgkb | rs41417446 |
gwascentral | rs41417446 |
openSNP | rs41417446 |
23andMe | rs41417446 |
SNPshot | rs41417446 |
SNPdbe | rs41417446 |
MSV3d | rs41417446 |
GWAS Ctlg | rs41417446 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs41417446(-;-) |
Alt | rs41417446(-;-) |
Reference | Rs41417446(TTT;TTT) |
Significance | Pathogenic |
Disease | Hemoglobinopathy Heinz body anemia |
Variation | info |
Gene | HBB |
CLNDBN | Hemoglobinopathy Heinz body anemia |
Reversed | 1 |
HGVS | NC_000011.9:g.5247993_5247995delAAA |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016277.3, RCV000016278.26, |