rs35477349
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (;) | 0 | common in clinvar |
| (-;-) | 0 | common in complete genomics |
| (I;I) | 0 |
| Make rs35477349(-;T) |
| Make rs35477349(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226942 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35477349 |
| dbSNP (classic) | rs35477349 |
| ClinGen | rs35477349 |
| ebi | rs35477349 |
| HLI | rs35477349 |
| Exac | rs35477349 |
| Gnomad | rs35477349 |
| Varsome | rs35477349 |
| LitVar | rs35477349 |
| Map | rs35477349 |
| PheGenI | rs35477349 |
| Biobank | rs35477349 |
| 1000 genomes | rs35477349 |
| hgdp | rs35477349 |
| ensembl | rs35477349 |
| geneview | rs35477349 |
| scholar | rs35477349 |
| rs35477349 | |
| pharmgkb | rs35477349 |
| gwascentral | rs35477349 |
| openSNP | rs35477349 |
| 23andMe | rs35477349 |
| SNPshot | rs35477349 |
| SNPdbe | rs35477349 |
| MSV3d | rs35477349 |
| GWAS Ctlg | rs35477349 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35477349(T;T) |
| Alt | rs35477349(T;T) |
| Reference | Rs35477349(-;-) |
| Significance | Pathogenic |
| Disease | beta^0^ Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta^0^ Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248172_5248173insA |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016829.23, |
[PMID 9494052] A new beta-thalassemia allele, codon 26 (GAG-->GTAG), found in a Japanese.
