rs34313675
From SNPedia
Orientation | minus |
Stabilized | minus |
Make rs34313675(A;A) |
Make rs34313675(A;T) |
Make rs34313675(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 5234395 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs34313675 |
dbSNP (classic) | rs34313675 |
ClinGen | rs34313675 |
ebi | rs34313675 |
HLI | rs34313675 |
Exac | rs34313675 |
Gnomad | rs34313675 |
Varsome | rs34313675 |
LitVar | rs34313675 |
Map | rs34313675 |
PheGenI | rs34313675 |
Biobank | rs34313675 |
1000 genomes | rs34313675 |
hgdp | rs34313675 |
ensembl | rs34313675 |
geneview | rs34313675 |
scholar | rs34313675 |
rs34313675 | |
pharmgkb | rs34313675 |
gwascentral | rs34313675 |
openSNP | rs34313675 |
23andMe | rs34313675 |
SNPshot | rs34313675 |
SNPdbe | rs34313675 |
MSV3d | rs34313675 |
GWAS Ctlg | rs34313675 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34313675(A;A) |
Alt | rs34313675(A;A) |
Reference | rs34313675(T;T) |
Significance | Other |
Disease | HEMOGLOBIN A(2) NYU HEMOGLOBIN NYU |
Variation | info |
Gene | HBD |
CLNDBN | HEMOGLOBIN A(2) NYU HEMOGLOBIN NYU |
Reversed | 1 |
HGVS | NC_000011.9:g.5255625A>T |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016199.2, RCV000016200.2, |
[PMID 4852213] Haemoglobin A2-NYU in the Netherlands. Incidence of delta-chain variants in human populations.
[PMID 5050942] Hemoglobins A 2 -Sphakia and A 2 -NYU in Canada.
[PMID 5824070] Hemoglobin NYU, a delta chain variant, alpha 2 delta 2 lys.
[PMID 5956225] Hemoglobin A'2 abnormality associated with thalassemia minor in a Greek woman. Study of a family.