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rs483352814

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs483352814(A;A)
Make rs483352814(A;G)
ReferenceGRCh38 38.1/142
Chromosome21
Position44901527
GeneITGB2
is asnp
is mentioned by
dbSNPrs483352814
ebirs483352814
HLIrs483352814
Exacrs483352814
Varsomers483352814
Maprs483352814
PheGenIrs483352814
hapmaprs483352814
1000 genomesrs483352814
hgdprs483352814
ensemblrs483352814
gopubmedrs483352814
geneviewrs483352814
scholarrs483352814
googlers483352814
pharmgkbrs483352814
gwascentralrs483352814
openSNPrs483352814
23andMers483352814
23andMe allrs483352814
SNP Nexus

SNPshotrs483352814
SNPdbers483352814
MSV3drs483352814
GWAS Ctlgrs483352814
Max Magnitude0
ClinVar
Risk rs483352814(A;A)
Alt rs483352814(A;A)
Reference rs483352814(G;G)
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.46321442C>T
CLNSRC ClinVar
CLNACC RCV000087122.1, RCV000209072.1,