rs35654785
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | |
(G;G) | 0 | common in clinvar |
Make rs35654785(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 5234342 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs35654785 |
dbSNP (classic) | rs35654785 |
ClinGen | rs35654785 |
ebi | rs35654785 |
HLI | rs35654785 |
Exac | rs35654785 |
Gnomad | rs35654785 |
Varsome | rs35654785 |
LitVar | rs35654785 |
Map | rs35654785 |
PheGenI | rs35654785 |
Biobank | rs35654785 |
1000 genomes | rs35654785 |
hgdp | rs35654785 |
ensembl | rs35654785 |
geneview | rs35654785 |
scholar | rs35654785 |
rs35654785 | |
pharmgkb | rs35654785 |
gwascentral | rs35654785 |
openSNP | rs35654785 |
23andMe | rs35654785 |
SNPshot | rs35654785 |
SNPdbe | rs35654785 |
MSV3d | rs35654785 |
GWAS Ctlg | rs35654785 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs35654785(C;C) |
Alt | Rs35654785(C;C) |
Reference | Rs35654785(G;G) |
Significance | Pathogenic |
Disease | delta Thalassemia |
Variation | info |
Gene | HBD |
CLNDBN | delta Thalassemia |
Reversed | 1 |
HGVS | NC_000011.9:g.5255572C>G |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016223.25, |
[PMID 2291578] Molecular analysis of atypical beta-thalassemia heterozygotes.