rs34383555
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs34383555(A;A) |
Make rs34383555(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 5234196 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs34383555 |
dbSNP (classic) | rs34383555 |
ClinGen | rs34383555 |
ebi | rs34383555 |
HLI | rs34383555 |
Exac | rs34383555 |
Gnomad | rs34383555 |
Varsome | rs34383555 |
LitVar | rs34383555 |
Map | rs34383555 |
PheGenI | rs34383555 |
Biobank | rs34383555 |
1000 genomes | rs34383555 |
hgdp | rs34383555 |
ensembl | rs34383555 |
geneview | rs34383555 |
scholar | rs34383555 |
rs34383555 | |
pharmgkb | rs34383555 |
gwascentral | rs34383555 |
openSNP | rs34383555 |
23andMe | rs34383555 |
SNPshot | rs34383555 |
SNPdbe | rs34383555 |
MSV3d | rs34383555 |
GWAS Ctlg | rs34383555 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34383555(A;A) |
Alt | rs34383555(A;A) |
Reference | Rs34383555(C;C) |
Significance | Other |
Disease | HEMOGLOBIN A(2) METAPONTO |
Variation | info |
Gene | HBD |
CLNDBN | HEMOGLOBIN A(2) METAPONTO |
Reversed | 1 |
HGVS | NC_000011.9:g.5255426G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016233.1, |
[PMID 12402333] Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features.