rs34224604
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(I;I) | 0 |
Make rs34224604(-;-) |
Make rs34224604(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5234128 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs34224604 |
dbSNP (classic) | rs34224604 |
ClinGen | rs34224604 |
ebi | rs34224604 |
HLI | rs34224604 |
Exac | rs34224604 |
Gnomad | rs34224604 |
Varsome | rs34224604 |
LitVar | rs34224604 |
Map | rs34224604 |
PheGenI | rs34224604 |
Biobank | rs34224604 |
1000 genomes | rs34224604 |
hgdp | rs34224604 |
ensembl | rs34224604 |
geneview | rs34224604 |
scholar | rs34224604 |
rs34224604 | |
pharmgkb | rs34224604 |
gwascentral | rs34224604 |
openSNP | rs34224604 |
23andMe | rs34224604 |
SNPshot | rs34224604 |
SNPdbe | rs34224604 |
MSV3d | rs34224604 |
GWAS Ctlg | rs34224604 |
Merged from | Rs606231215 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34224604(-;-) |
Alt | rs34224604(-;-) |
Reference | Rs34224604(A;A) |
Significance | Pathogenic |
Disease | Delta-zero-thalassemia |
Variation | info |
Gene | HBD |
CLNDBN | Delta-zero-thalassemia, knossos type |
Reversed | 1 |
HGVS | NC_000011.9:g.5255357delT |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016215.25, |
[PMID 1873227] A novel delta 0 mutation in cis with Hb Knossos: a study of different genetic interactions in three Egyptian families.