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rs483352818

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs483352818(C;C)
Make rs483352818(C;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position44889274
GeneITGB2
is asnp
is mentioned by
dbSNPrs483352818
ebirs483352818
HLIrs483352818
Exacrs483352818
Varsomers483352818
Maprs483352818
PheGenIrs483352818
hapmaprs483352818
1000 genomesrs483352818
hgdprs483352818
ensemblrs483352818
gopubmedrs483352818
geneviewrs483352818
scholarrs483352818
googlers483352818
pharmgkbrs483352818
gwascentralrs483352818
openSNPrs483352818
23andMers483352818
23andMe allrs483352818
SNP Nexus

SNPshotrs483352818
SNPdbers483352818
MSV3drs483352818
GWAS Ctlgrs483352818
Max Magnitude0
ClinVar
Risk rs483352818(C;C)
Alt rs483352818(C;C)
Reference rs483352818(T;T)
Significance Pathogenic
Disease Leukocyte adhesion deficiency type 1
Variation info
Gene ITGB2
CLNDBN Leukocyte adhesion deficiency type 1
Reversed 1
HGVS NC_000021.8:g.46309189A>G
CLNSRC ClinVar
CLNACC RCV000087110.1,