rs35849348
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs35849348(A;A) |
| Make rs35849348(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5232998 |
| Gene | HBD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35849348 |
| dbSNP (classic) | rs35849348 |
| ClinGen | rs35849348 |
| ebi | rs35849348 |
| HLI | rs35849348 |
| Exac | rs35849348 |
| Gnomad | rs35849348 |
| Varsome | rs35849348 |
| LitVar | rs35849348 |
| Map | rs35849348 |
| PheGenI | rs35849348 |
| Biobank | rs35849348 |
| 1000 genomes | rs35849348 |
| hgdp | rs35849348 |
| ensembl | rs35849348 |
| geneview | rs35849348 |
| scholar | rs35849348 |
| rs35849348 | |
| pharmgkb | rs35849348 |
| gwascentral | rs35849348 |
| openSNP | rs35849348 |
| 23andMe | rs35849348 |
| SNPshot | rs35849348 |
| SNPdbe | rs35849348 |
| MSV3d | rs35849348 |
| GWAS Ctlg | rs35849348 |
| GMAF | 0.0009183 |
| Max Magnitude | 0 |
| ? | (A;G) (G;G) | |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs35849348(A;A) |
| Alt | rs35849348(A;A) |
| Reference | Rs35849348(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN A(2) BABINGA |
| Variation | info |
| Gene | HBD |
| CLNDBN | HEMOGLOBIN A(2) BABINGA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5254228C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016189.2, |
[PMID 5678016] Haemoglobin Babinga (delta 136 glycine-aspartic acid): a new delta chain variant.
[PMID 5766005] Hemoglobin Babinga or alpha 2 delta 2 136 Gly--Asp observed in the American Negro.
[PMID 6207140] Hb A2-Babinga, Hb S, and HPFH in members of a family from Creola, Alabama.
