rs34713708
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs34713708(A;G) |
| Make rs34713708(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177320 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34713708 |
| dbSNP (classic) | rs34713708 |
| ClinGen | rs34713708 |
| ebi | rs34713708 |
| HLI | rs34713708 |
| Exac | rs34713708 |
| Gnomad | rs34713708 |
| Varsome | rs34713708 |
| LitVar | rs34713708 |
| Map | rs34713708 |
| PheGenI | rs34713708 |
| Biobank | rs34713708 |
| 1000 genomes | rs34713708 |
| hgdp | rs34713708 |
| ensembl | rs34713708 |
| geneview | rs34713708 |
| scholar | rs34713708 |
| rs34713708 | |
| pharmgkb | rs34713708 |
| gwascentral | rs34713708 |
| openSNP | rs34713708 |
| 23andMe | rs34713708 |
| SNPshot | rs34713708 |
| SNPdbe | rs34713708 |
| MSV3d | rs34713708 |
| GWAS Ctlg | rs34713708 |
| Merged from | Rs63750546 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34713708(G;G) |
| Alt | rs34713708(G;G) |
| Reference | Rs34713708(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN STRUMICA HEMOGLOBIN SERBIA |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN STRUMICA HEMOGLOBIN SERBIA |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227319A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017161.2, RCV000017162.2, |
[PMID 1191675] Hemoglobin-Strumica or alpha 2 112(G19) His replaced by Arg beta 2. (With an addendum: hemoglobin-J-Paris-I, alpha 2 12(A10) Ala replaced by Asp beta 2, in the same population).
[PMID 1225585] Hb Serbia (alpha 112 (G19) His leads to Arg), a new haemoglobin variant from Yugoslavia.
