rs35890380
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs35890380(A;A) |
| Make rs35890380(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226649 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35890380 |
| dbSNP (classic) | rs35890380 |
| ClinGen | rs35890380 |
| ebi | rs35890380 |
| HLI | rs35890380 |
| Exac | rs35890380 |
| Gnomad | rs35890380 |
| Varsome | rs35890380 |
| LitVar | rs35890380 |
| Map | rs35890380 |
| PheGenI | rs35890380 |
| Biobank | rs35890380 |
| 1000 genomes | rs35890380 |
| hgdp | rs35890380 |
| ensembl | rs35890380 |
| geneview | rs35890380 |
| scholar | rs35890380 |
| rs35890380 | |
| pharmgkb | rs35890380 |
| gwascentral | rs35890380 |
| openSNP | rs35890380 |
| 23andMe | rs35890380 |
| SNPshot | rs35890380 |
| SNPdbe | rs35890380 |
| MSV3d | rs35890380 |
| GWAS Ctlg | rs35890380 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35890380(A;A) rs35890380(G;G) rs35890380(T;T) |
| Alt | rs35890380(A;A) rs35890380(G;G) rs35890380(T;T) |
| Reference | Rs35890380(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN G (SZUHU) HEMOGLOBIN GIFU |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN G (SZUHU) HEMOGLOBIN GIFU |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247879G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016354.3, RCV000016355.3, |
[PMID 1150295] Haemoglobin G-Szuhu, beta80 Asn-Lys, in the homozygous state in a patient with abetalipoproteinaemia.
[PMID 1802885] Six rare hemoglobin variants found in Sicily.
[PMID 5820686] Hemoglobin G Szuhu: beta80 Asn replaced by Lys.
