rs35020585
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs35020585(G;T) |
| Make rs35020585(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225607 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35020585 |
| dbSNP (classic) | rs35020585 |
| ClinGen | rs35020585 |
| ebi | rs35020585 |
| HLI | rs35020585 |
| Exac | rs35020585 |
| Gnomad | rs35020585 |
| Varsome | rs35020585 |
| LitVar | rs35020585 |
| Map | rs35020585 |
| PheGenI | rs35020585 |
| Biobank | rs35020585 |
| 1000 genomes | rs35020585 |
| hgdp | rs35020585 |
| ensembl | rs35020585 |
| geneview | rs35020585 |
| scholar | rs35020585 |
| rs35020585 | |
| pharmgkb | rs35020585 |
| gwascentral | rs35020585 |
| openSNP | rs35020585 |
| 23andMe | rs35020585 |
| SNPshot | rs35020585 |
| SNPdbe | rs35020585 |
| MSV3d | rs35020585 |
| GWAS Ctlg | rs35020585 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35020585(A;A) rs35020585(C;C) rs35020585(T;T) |
| Alt | rs35020585(A;A) rs35020585(C;C) rs35020585(T;T) |
| Reference | Rs35020585(G;G) |
| Significance | Other |
| Disease | not provided HEMOGLOBIN ANDREW-MINNEAPOLIS |
| Variation | info |
| Gene | HBB |
| CLNDBN | not provided HEMOGLOBIN ANDREW-MINNEAPOLIS |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246837C>A; NC_000011.9:g.5246837C>G |
| CLNSRC | OMIM Allelic Variant HBVAR |
| CLNACC | RCV000144412.1, RCV000016249.1, |
[PMID 908760
] Hypoxic ventilatory response in subjects with normal and high oxygen affinity hemoglobins.
[PMID 2272844] Hb Andrew-Minneapolis [beta 144(HC1)Lys----Asn] in a Bulgarian family.
[PMID 4413656] Hemoglobin Andrew-Minneapolis alpha 2 A beta 2 144 Lys leads to Asn: a new high-oxygen-affinity mutant human hemoglobin.
