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rs150074056

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position48750933
GeneFUT1
is asnp
is mentioned by
dbSNPrs150074056
dbSNP (classic)rs150074056
ClinGenrs150074056
ebirs150074056
HLIrs150074056
Exacrs150074056
Gnomadrs150074056
Varsomers150074056
LitVarrs150074056
Maprs150074056
PheGenIrs150074056
Biobankrs150074056
1000 genomesrs150074056
hgdprs150074056
ensemblrs150074056
geneviewrs150074056
scholarrs150074056
googlers150074056
pharmgkbrs150074056
gwascentralrs150074056
openSNPrs150074056
23andMers150074056
SNPshotrs150074056
SNPdbers150074056
MSV3drs150074056
GWAS Ctlgrs150074056
Max Magnitude2

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,