rs35395083
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs35395083(A;A) |
| Make rs35395083(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5234366 |
| Gene | HBD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35395083 |
| dbSNP (classic) | rs35395083 |
| ClinGen | rs35395083 |
| ebi | rs35395083 |
| HLI | rs35395083 |
| Exac | rs35395083 |
| Gnomad | rs35395083 |
| Varsome | rs35395083 |
| LitVar | rs35395083 |
| Map | rs35395083 |
| PheGenI | rs35395083 |
| Biobank | rs35395083 |
| 1000 genomes | rs35395083 |
| hgdp | rs35395083 |
| ensembl | rs35395083 |
| geneview | rs35395083 |
| scholar | rs35395083 |
| rs35395083 | |
| pharmgkb | rs35395083 |
| gwascentral | rs35395083 |
| openSNP | rs35395083 |
| 23andMe | rs35395083 |
| SNPshot | rs35395083 |
| SNPdbe | rs35395083 |
| MSV3d | rs35395083 |
| GWAS Ctlg | rs35395083 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35395083(A;A) |
| Alt | rs35395083(A;A) |
| Reference | Rs35395083(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN A(2) FLATBUSH HEMOGLOBIN FLATBUSH (GEORGIA) |
| Variation | info |
| Gene | HBD |
| CLNDBN | HEMOGLOBIN A(2) FLATBUSH HEMOGLOBIN FLATBUSH (GEORGIA) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5255596G>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016193.1, RCV000016194.1, |
[PMID 6058951] Structural characterization of two delta chain variants. Hemoglobin A'-2 (B2) and hemoglobin Flatbush.
[PMID 13973023] A 'new' variant of haemoglobin A2 and its segregation in a family with haemoglobin S.
[PMID 14236725] A VARIANT OF HEMOGLOBIN A2 FOUND IN A NEGRO FAMILY.
