rs33984863
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33984863(C;C) |
| Make rs33984863(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225633 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33984863 |
| dbSNP (classic) | rs33984863 |
| ClinGen | rs33984863 |
| ebi | rs33984863 |
| HLI | rs33984863 |
| Exac | rs33984863 |
| Gnomad | rs33984863 |
| Varsome | rs33984863 |
| LitVar | rs33984863 |
| Map | rs33984863 |
| PheGenI | rs33984863 |
| Biobank | rs33984863 |
| 1000 genomes | rs33984863 |
| hgdp | rs33984863 |
| ensembl | rs33984863 |
| geneview | rs33984863 |
| scholar | rs33984863 |
| rs33984863 | |
| pharmgkb | rs33984863 |
| gwascentral | rs33984863 |
| openSNP | rs33984863 |
| 23andMe | rs33984863 |
| SNPshot | rs33984863 |
| SNPdbe | rs33984863 |
| MSV3d | rs33984863 |
| GWAS Ctlg | rs33984863 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33984863(A;A) rs33984863(C;C) rs33984863(T;T) |
| Alt | rs33984863(A;A) rs33984863(C;C) rs33984863(T;T) |
| Reference | Rs33984863(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN 'T LANGE LAND |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN 'T LANGE LAND |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246863C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016857.2, |
[PMID 20353351] Hb Perpignan [beta136(H14)Gly-->Ser], a silent variant associated with normal hematology.
[PMID 11570727] Hb 't Lange Land [beta136(H14)Gly --> Arg]: a new hemoglobin variant described in a Dutch patient of Chinese origin.
