rs35324967
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs35324967(A;A) |
Make rs35324967(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5232765 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs35324967 |
dbSNP (classic) | rs35324967 |
ClinGen | rs35324967 |
ebi | rs35324967 |
HLI | rs35324967 |
Exac | rs35324967 |
Gnomad | rs35324967 |
Varsome | rs35324967 |
LitVar | rs35324967 |
Map | rs35324967 |
PheGenI | rs35324967 |
Biobank | rs35324967 |
1000 genomes | rs35324967 |
hgdp | rs35324967 |
ensembl | rs35324967 |
geneview | rs35324967 |
scholar | rs35324967 |
rs35324967 | |
pharmgkb | rs35324967 |
gwascentral | rs35324967 |
openSNP | rs35324967 |
23andMe | rs35324967 |
SNPshot | rs35324967 |
SNPdbe | rs35324967 |
MSV3d | rs35324967 |
GWAS Ctlg | rs35324967 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35324967(A;A) |
Alt | rs35324967(A;A) |
Reference | Rs35324967(G;G) |
Significance | Pathogenic |
Disease | delta Thalassemia |
Variation | info |
Gene | HBD |
CLNDBN | delta Thalassemia |
Reversed | 1 |
HGVS | NC_000011.9:g.5253995C>T |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016219.25, |
[PMID 1309671] Delta-thalassemia due to a mutation in an erythroid-specific binding protein sequence 3' to the delta-globin gene.