rs34489183
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs34489183(C;G) |
Make rs34489183(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5234151 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs34489183 |
dbSNP (classic) | rs34489183 |
ClinGen | rs34489183 |
ebi | rs34489183 |
HLI | rs34489183 |
Exac | rs34489183 |
Gnomad | rs34489183 |
Varsome | rs34489183 |
LitVar | rs34489183 |
Map | rs34489183 |
PheGenI | rs34489183 |
Biobank | rs34489183 |
1000 genomes | rs34489183 |
hgdp | rs34489183 |
ensembl | rs34489183 |
geneview | rs34489183 |
scholar | rs34489183 |
rs34489183 | |
pharmgkb | rs34489183 |
gwascentral | rs34489183 |
openSNP | rs34489183 |
23andMe | rs34489183 |
SNPshot | rs34489183 |
SNPdbe | rs34489183 |
MSV3d | rs34489183 |
GWAS Ctlg | rs34489183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34489183(G;G) |
Alt | rs34489183(G;G) |
Reference | Rs34489183(C;C) |
Significance | Other |
Disease | HEMOGLOBIN A(2) ADRIA |
Variation | info |
Gene | HBD |
CLNDBN | HEMOGLOBIN A(2) ADRIA |
Reversed | 1 |
HGVS | NC_000011.9:g.5255381G>C |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016188.1, |
[PMID 640854] Hb A2-Adria (delta 51 Pro yield Arg (D2)): a new delta-chain variant found in association with beta-thalassemia.