rs35317336
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs35317336(C;G) |
| Make rs35317336(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176996 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35317336 |
| dbSNP (classic) | rs35317336 |
| ClinGen | rs35317336 |
| ebi | rs35317336 |
| HLI | rs35317336 |
| Exac | rs35317336 |
| Gnomad | rs35317336 |
| Varsome | rs35317336 |
| LitVar | rs35317336 |
| Map | rs35317336 |
| PheGenI | rs35317336 |
| Biobank | rs35317336 |
| 1000 genomes | rs35317336 |
| hgdp | rs35317336 |
| ensembl | rs35317336 |
| geneview | rs35317336 |
| scholar | rs35317336 |
| rs35317336 | |
| pharmgkb | rs35317336 |
| gwascentral | rs35317336 |
| openSNP | rs35317336 |
| 23andMe | rs35317336 |
| SNPshot | rs35317336 |
| SNPdbe | rs35317336 |
| MSV3d | rs35317336 |
| GWAS Ctlg | rs35317336 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35317336(G;G) |
| Alt | rs35317336(G;G) |
| Reference | Rs35317336(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN MEXICO HEMOGLOBIN J HEMOGLOBIN J (MEXICO) HEMOGLOBIN J (PARIS 2) HEMOGLOBIN UPPSALA |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN MEXICO HEMOGLOBIN J HEMOGLOBIN J (MEXICO) HEMOGLOBIN J (PARIS 2) HEMOGLOBIN UPPSALA |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226995C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017109.2, RCV000017110.2, RCV000017111.2, RCV000017112.2, RCV000017113.2, |
[PMID 71990] Demonstration of two alpha-globin genes per human haploid genome for normals and Hb J Mexico.
[PMID 669703] Genetic and biosynthetic studies of families carrying hemoglobin J alpha Mexico: association of alpha-thalassemia with HbJ.
[PMID 1052168] Homozygous cases for hemoglobin J Mexico (alpha54 (E3)Gln replaced by Glu) evidence for a duplicated alpha gene with unequal expression.
[PMID 5650416] Chemical characterization of hemoglobin-Mexico and hemoglobin-Chiapas.
[PMID 5798597] On the chemical structure of haemoglobin Uppsala.
