rs35615982
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs35615982(A;A) |
| Make rs35615982(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176754 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35615982 |
| dbSNP (classic) | rs35615982 |
| ClinGen | rs35615982 |
| ebi | rs35615982 |
| HLI | rs35615982 |
| Exac | rs35615982 |
| Gnomad | rs35615982 |
| Varsome | rs35615982 |
| LitVar | rs35615982 |
| Map | rs35615982 |
| PheGenI | rs35615982 |
| Biobank | rs35615982 |
| 1000 genomes | rs35615982 |
| hgdp | rs35615982 |
| ensembl | rs35615982 |
| geneview | rs35615982 |
| scholar | rs35615982 |
| rs35615982 | |
| pharmgkb | rs35615982 |
| gwascentral | rs35615982 |
| openSNP | rs35615982 |
| 23andMe | rs35615982 |
| SNPshot | rs35615982 |
| SNPdbe | rs35615982 |
| MSV3d | rs35615982 |
| GWAS Ctlg | rs35615982 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35615982(A;A) |
| Alt | rs35615982(A;A) |
| Reference | Rs35615982(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN J (PARIS 1) HEMOGLOBIN J (ALJEZUR) |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN J (PARIS 1) HEMOGLOBIN J (ALJEZUR) |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226753C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017068.2, RCV000017069.2, |
[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 3124472] First observation of hemoglobin J Paris I [alpha-2-12(A10)alanine-aspartic acid beta-2] in the Indian subcontinent.
[PMID 4971935] Haemoglobin J Paris in the south of Portugal (Algarve).
[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.
