rs63751148
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 |
| Make rs63751148(A;A) |
| Make rs63751148(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5254366 |
| Gene | HBG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63751148 |
| dbSNP (classic) | rs63751148 |
| ClinGen | rs63751148 |
| ebi | rs63751148 |
| HLI | rs63751148 |
| Exac | rs63751148 |
| Gnomad | rs63751148 |
| Varsome | rs63751148 |
| LitVar | rs63751148 |
| Map | rs63751148 |
| PheGenI | rs63751148 |
| Biobank | rs63751148 |
| 1000 genomes | rs63751148 |
| hgdp | rs63751148 |
| ensembl | rs63751148 |
| geneview | rs63751148 |
| scholar | rs63751148 |
| rs63751148 | |
| pharmgkb | rs63751148 |
| gwascentral | rs63751148 |
| openSNP | rs63751148 |
| 23andMe | rs63751148 |
| SNPshot | rs63751148 |
| SNPdbe | rs63751148 |
| MSV3d | rs63751148 |
| GWAS Ctlg | rs63751148 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63751148(A;A) rs63751148(C;C) rs63751148(T;T) |
| Alt | rs63751148(A;A) rs63751148(C;C) rs63751148(T;T) |
| Reference | Rs63751148(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN F (MARIETTA) |
| Variation | info |
| Gene | HBG2 |
| CLNDBN | HEMOGLOBIN F (MARIETTA) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5275596C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016111.1, |
[PMID 6183237] Hb F-Marietta or G gamma I 80[EF4] Asp replaced by Asn, observed in a Caucasian baby.
[PMID 19958193] Two abnormal fetal hemoglobins found in the Sardinian population: the new Hb F-Osilo [(A)gamma119(GH2)Gly-->Ser, GGC > AGC] and Hb F-Paulinia [(G)gamma80(EF4)Asp-->Tyr, GAT > TAT] already described in the Brazilian population.
