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rs28399653

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28399653(A;A)
Make rs28399653(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position44812188
GeneBCAM
is asnp
is mentioned by
dbSNPrs28399653
ebirs28399653
HLIrs28399653
Exacrs28399653
Varsomers28399653
Maprs28399653
PheGenIrs28399653
hapmaprs28399653
1000 genomesrs28399653
hgdprs28399653
ensemblrs28399653
gopubmedrs28399653
geneviewrs28399653
scholarrs28399653
googlers28399653
pharmgkbrs28399653
gwascentralrs28399653
openSNPrs28399653
23andMers28399653
23andMe allrs28399653
SNP Nexus

SNPshotrs28399653
SNPdbers28399653
MSV3drs28399653
GWAS Ctlgrs28399653
GMAF0.01837
Max Magnitude0
OMIM111200
DescLUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)
Variant0001
Relatedalso
OMIM612773
Desc
Variant0001
Relatedalso


ClinVar
Risk rs28399653(A,C;A,C)
Alt rs28399653(A,C;A,C)
Reference rs28399653(G;G)
Significance Non-pathogenic
Disease LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)
Variation info
Gene BCAM
CLNDBN LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)
Reversed 0
HGVS NC_000019.9:g.45315445G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000467.1,



[PMID 21257350OA-icon.png] DNA-based methods in the immunohematology reference laboratory.


GET Evidence
BCAM-R77H
aa_change Arg77His
aa_change_short R77H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0299738
summary