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rs387906411

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906411(A;A)
Make rs387906411(A;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position44910781
GeneITGB2, LOC107987303
is asnp
is mentioned by
dbSNPrs387906411
dbSNP (classic)rs387906411
ClinGenrs387906411
ebirs387906411
HLIrs387906411
Exacrs387906411
Gnomadrs387906411
Varsomers387906411
LitVarrs387906411
Maprs387906411
PheGenIrs387906411
Biobankrs387906411
1000 genomesrs387906411
hgdprs387906411
ensemblrs387906411
geneviewrs387906411
scholarrs387906411
googlers387906411
pharmgkbrs387906411
gwascentralrs387906411
openSNPrs387906411
23andMers387906411
SNPshotrs387906411
SNPdbers387906411
MSV3drs387906411
GWAS Ctlgrs387906411
Max Magnitude0
ClinVar
Risk rs387906411(A;A)
Alt rs387906411(A;A)
Reference Rs387906411(T;T)
Significance Pathogenic
Disease Leukocyte adhesion deficiency
Variation info
Gene ITGB2
CLNDBN Leukocyte adhesion deficiency
Reversed 1
HGVS NC_000021.8:g.46330696A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010070.1,