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rs104894687

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894687(A;A)
Make rs104894687(A;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position48750791
GeneFUT1
is asnp
is mentioned by
dbSNPrs104894687
dbSNP (classic)rs104894687
ClinGenrs104894687
ebirs104894687
HLIrs104894687
Exacrs104894687
Gnomadrs104894687
Varsomers104894687
LitVarrs104894687
Maprs104894687
PheGenIrs104894687
Biobankrs104894687
1000 genomesrs104894687
hgdprs104894687
ensemblrs104894687
geneviewrs104894687
scholarrs104894687
googlers104894687
pharmgkbrs104894687
gwascentralrs104894687
openSNPrs104894687
23andMers104894687
SNPshotrs104894687
SNPdbers104894687
MSV3drs104894687
GWAS Ctlgrs104894687
Max Magnitude0
OMIM211100
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894687(A;A)
Alt rs104894687(A;A)
Reference Rs104894687(T;T)
Significance Pathogenic
Disease Para-Bombay phenotype
Variation info
Gene FUT1
CLNDBN Para-Bombay phenotype
Reversed 1
HGVS NC_000019.9:g.49254048A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012923.23,