rs35433207
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs35433207(A;G) |
Make rs35433207(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5234426 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs35433207 |
dbSNP (classic) | rs35433207 |
ClinGen | rs35433207 |
ebi | rs35433207 |
HLI | rs35433207 |
Exac | rs35433207 |
Gnomad | rs35433207 |
Varsome | rs35433207 |
LitVar | rs35433207 |
Map | rs35433207 |
PheGenI | rs35433207 |
Biobank | rs35433207 |
1000 genomes | rs35433207 |
hgdp | rs35433207 |
ensembl | rs35433207 |
geneview | rs35433207 |
scholar | rs35433207 |
rs35433207 | |
pharmgkb | rs35433207 |
gwascentral | rs35433207 |
openSNP | rs35433207 |
23andMe | rs35433207 |
SNPshot | rs35433207 |
SNPdbe | rs35433207 |
MSV3d | rs35433207 |
GWAS Ctlg | rs35433207 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35433207(G;G) rs35433207(T;T) |
Alt | rs35433207(G;G) rs35433207(T;T) |
Reference | Rs35433207(A;A) |
Significance | Other |
Disease | HEMOGLOBIN A(2) SPHAKIA |
Variation | info |
Gene | HBD |
CLNDBN | HEMOGLOBIN A(2) SPHAKIA |
Reversed | 1 |
HGVS | NC_000011.9:g.5255656T>C |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016202.1, |
[PMID 5050942] Hemoglobins A 2 -Sphakia and A 2 -NYU in Canada.
[PMID 5909792] Hemoglobin Sphakia: a delta-chain variant of hemoglobin A2 from Crete.
[PMID 17145605] Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations.