rs1135101
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs1135101(A;A) |
| Make rs1135101(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226788 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1135101 |
| dbSNP (classic) | rs1135101 |
| ClinGen | rs1135101 |
| ebi | rs1135101 |
| HLI | rs1135101 |
| Exac | rs1135101 |
| Gnomad | rs1135101 |
| Varsome | rs1135101 |
| LitVar | rs1135101 |
| Map | rs1135101 |
| PheGenI | rs1135101 |
| Biobank | rs1135101 |
| 1000 genomes | rs1135101 |
| hgdp | rs1135101 |
| ensembl | rs1135101 |
| geneview | rs1135101 |
| scholar | rs1135101 |
| rs1135101 | |
| pharmgkb | rs1135101 |
| gwascentral | rs1135101 |
| openSNP | rs1135101 |
| 23andMe | rs1135101 |
| SNPshot | rs1135101 |
| SNPdbe | rs1135101 |
| MSV3d | rs1135101 |
| GWAS Ctlg | rs1135101 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1135101(A;A) rs1135101(C;C) |
| Alt | rs1135101(A;A) rs1135101(C;C) |
| Reference | Rs1135101(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN SANTANDER |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN SANTANDER |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248018A>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016872.2, |
[PMID 12603091] Hb Santander [beta34(B16)Val --> Asp (GTC --> GAC)]: a new unstable variant found as a de novo mutation in a Spanish patient.
