rs35994191
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs35994191(A;A) |
| Make rs35994191(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177389 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35994191 |
| dbSNP (classic) | rs35994191 |
| ClinGen | rs35994191 |
| ebi | rs35994191 |
| HLI | rs35994191 |
| Exac | rs35994191 |
| Gnomad | rs35994191 |
| Varsome | rs35994191 |
| LitVar | rs35994191 |
| Map | rs35994191 |
| PheGenI | rs35994191 |
| Biobank | rs35994191 |
| 1000 genomes | rs35994191 |
| hgdp | rs35994191 |
| ensembl | rs35994191 |
| geneview | rs35994191 |
| scholar | rs35994191 |
| rs35994191 | |
| pharmgkb | rs35994191 |
| gwascentral | rs35994191 |
| openSNP | rs35994191 |
| 23andMe | rs35994191 |
| SNPshot | rs35994191 |
| SNPdbe | rs35994191 |
| MSV3d | rs35994191 |
| GWAS Ctlg | rs35994191 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35994191(A;A) |
| Alt | rs35994191(A;A) |
| Reference | Rs35994191(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN PAVIE |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN PAVIE |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227388T>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017186.2, |
[PMID 2347082] A new hemoglobin variant found during investigations of diabetes mellitus: Hb Pavie [alpha 135 (H18) Val----Glu].
