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rs9983887

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs9983887(A;A)
Make rs9983887(A;G)
ReferenceGRCh38 38.1/142
Chromosome21
Position44903541
GeneITGB2
is asnp
is mentioned by
dbSNPrs9983887
ebirs9983887
HLIrs9983887
Exacrs9983887
Varsomers9983887
Maprs9983887
PheGenIrs9983887
hapmaprs9983887
1000 genomesrs9983887
hgdprs9983887
ensemblrs9983887
gopubmedrs9983887
geneviewrs9983887
scholarrs9983887
googlers9983887
pharmgkbrs9983887
gwascentralrs9983887
openSNPrs9983887
23andMers9983887
23andMe allrs9983887
SNP Nexus

SNPshotrs9983887
SNPdbers9983887
MSV3drs9983887
GWAS Ctlgrs9983887
Max Magnitude0
? (A;A) (A;G) (G;G) 28
ClinVar
Risk rs9983887(A;A)
Alt rs9983887(A;A)
Reference rs9983887(G;G)
Significance Pathogenic
Disease Leukocyte adhesion deficiency type 1
Variation info
Gene ITGB2
CLNDBN Leukocyte adhesion deficiency type 1
Reversed 0
HGVS NC_000021.8:g.46323456G>A
CLNSRC ClinVar
CLNACC RCV000087116.1,