rs150074056
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 | Para-Bombay phenotype (blood transfusion consequences) |
| (A;G) | 2 | Carrier of a Para-Bombay phenotype (blood transfusion consequence) |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 48750933 |
| Gene | FUT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs150074056 |
| dbSNP (classic) | rs150074056 |
| ClinGen | rs150074056 |
| ebi | rs150074056 |
| HLI | rs150074056 |
| Exac | rs150074056 |
| Gnomad | rs150074056 |
| Varsome | rs150074056 |
| LitVar | rs150074056 |
| Map | rs150074056 |
| PheGenI | rs150074056 |
| Biobank | rs150074056 |
| 1000 genomes | rs150074056 |
| hgdp | rs150074056 |
| ensembl | rs150074056 |
| geneview | rs150074056 |
| scholar | rs150074056 |
| rs150074056 | |
| pharmgkb | rs150074056 |
| gwascentral | rs150074056 |
| openSNP | rs150074056 |
| 23andMe | rs150074056 |
| SNPshot | rs150074056 |
| SNPdbe | rs150074056 |
| MSV3d | rs150074056 |
| GWAS Ctlg | rs150074056 |
| Max Magnitude | 2 |
aka c.349C>T (p.His117Tyr)
FUT1 Para-Bombay phenotype; according to OMIM, this mutation is responsible for the weak H-deficient Reunion variant (when homozygous).
Note: Bombay and para-Bombay individuals display no apparent deleterious phenotype except in circumstances requiring blood transfusion, where they are cross-match incompatible with all donors except other H-deficient individuals.
23andMe name: i709466
| ClinVar | |
|---|---|
| Risk | Rs150074056(A;A) |
| Alt | Rs150074056(A;A) |
| Reference | Rs150074056(G;G) |
| Significance | Pathogenic |
| Disease | Para-bombay phenotype |
| Variation | info |
| Gene | FUT1 |
| CLNDBN | Para-bombay phenotype |
| Reversed | 0 |
| HGVS | NC_000019.9:g.49254190G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000207394.1, |
