rs35661168
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs35661168(A;T) |
Make rs35661168(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5234559 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs35661168 |
dbSNP (classic) | rs35661168 |
ClinGen | rs35661168 |
ebi | rs35661168 |
HLI | rs35661168 |
Exac | rs35661168 |
Gnomad | rs35661168 |
Varsome | rs35661168 |
LitVar | rs35661168 |
Map | rs35661168 |
PheGenI | rs35661168 |
Biobank | rs35661168 |
1000 genomes | rs35661168 |
hgdp | rs35661168 |
ensembl | rs35661168 |
geneview | rs35661168 |
scholar | rs35661168 |
rs35661168 | |
pharmgkb | rs35661168 |
gwascentral | rs35661168 |
openSNP | rs35661168 |
23andMe | rs35661168 |
SNPshot | rs35661168 |
SNPdbe | rs35661168 |
MSV3d | rs35661168 |
GWAS Ctlg | rs35661168 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35661168(T;T) |
Alt | rs35661168(T;T) |
Reference | Rs35661168(A;A) |
Significance | Pathogenic |
Disease | delta Thalassemia |
Variation | info |
Gene | HBD |
CLNDBN | delta Thalassemia |
Reversed | 1 |
HGVS | NC_000011.9:g.5255789T>A |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016238.25, |
[PMID 12402333] Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features.