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rs483352815

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs483352815(-;-)
Make rs483352815(-;C)
ReferenceGRCh38 38.1/142
Chromosome21
Position44900374
GeneITGB2
is asnp
is mentioned by
dbSNPrs483352815
ebirs483352815
HLIrs483352815
Exacrs483352815
Varsomers483352815
Maprs483352815
PheGenIrs483352815
hapmaprs483352815
1000 genomesrs483352815
hgdprs483352815
ensemblrs483352815
gopubmedrs483352815
geneviewrs483352815
scholarrs483352815
googlers483352815
pharmgkbrs483352815
gwascentralrs483352815
openSNPrs483352815
23andMers483352815
23andMe allrs483352815
SNP Nexus

SNPshotrs483352815
SNPdbers483352815
MSV3drs483352815
GWAS Ctlgrs483352815
Max Magnitude0
ClinVar
Risk rs483352815(;)
Alt rs483352815(;)
Reference rs483352815(C;C)
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.46320289delG
CLNSRC ClinVar
CLNACC RCV000087126.1,