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rs5030672

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs5030672(C;T)
Make rs5030672(T;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position44889397
GeneITGB2
is asnp
is mentioned by
dbSNPrs5030672
ebirs5030672
HLIrs5030672
Exacrs5030672
Varsomers5030672
Maprs5030672
PheGenIrs5030672
hapmaprs5030672
1000 genomesrs5030672
hgdprs5030672
ensemblrs5030672
gopubmedrs5030672
geneviewrs5030672
scholarrs5030672
googlers5030672
pharmgkbrs5030672
gwascentralrs5030672
openSNPrs5030672
23andMers5030672
23andMe allrs5030672
SNP Nexus

SNPshotrs5030672
SNPdbers5030672
MSV3drs5030672
GWAS Ctlgrs5030672
GMAF0.004132
Max Magnitude0
OMIM600065
Desc
Variant0006
Relatedalso
ClinVar
Risk rs5030672(T;T)
Alt rs5030672(T;T)
Reference rs5030672(C;C)
Significance Pathogenic
Disease Leukocyte adhesion deficiency
Variation info
Gene ITGB2
CLNDBN Leukocyte adhesion deficiency
Reversed 1
HGVS NC_000021.8:g.46309312G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010071.4,