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rs483352813

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs483352813(-;-)
Make rs483352813(-;C)
Make rs483352813(C;C)
ReferenceGRCh38 38.1/142
Chromosome21
Position44901656
GeneITGB2
is asnp
is mentioned by
dbSNPrs483352813
ebirs483352813
HLIrs483352813
Exacrs483352813
Varsomers483352813
Maprs483352813
PheGenIrs483352813
hapmaprs483352813
1000 genomesrs483352813
hgdprs483352813
ensemblrs483352813
gopubmedrs483352813
geneviewrs483352813
scholarrs483352813
googlers483352813
pharmgkbrs483352813
gwascentralrs483352813
openSNPrs483352813
23andMers483352813
23andMe allrs483352813
SNP Nexus

SNPshotrs483352813
SNPdbers483352813
MSV3drs483352813
GWAS Ctlgrs483352813
Max Magnitude0
ClinVar
Risk rs483352813(C;C)
Alt rs483352813(C;C)
Reference rs483352813(;)
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.46321572dupG
CLNSRC ClinVar
CLNACC RCV000087120.1, RCV000209072.1,