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, |