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rs483352816

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs483352816(G;T)
Make rs483352816(T;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position44895024
GeneITGB2
is asnp
is mentioned by
dbSNPrs483352816
ebirs483352816
HLIrs483352816
Exacrs483352816
Varsomers483352816
Maprs483352816
PheGenIrs483352816
hapmaprs483352816
1000 genomesrs483352816
hgdprs483352816
ensemblrs483352816
gopubmedrs483352816
geneviewrs483352816
scholarrs483352816
googlers483352816
pharmgkbrs483352816
gwascentralrs483352816
openSNPrs483352816
23andMers483352816
23andMe allrs483352816
SNP Nexus

SNPshotrs483352816
SNPdbers483352816
MSV3drs483352816
GWAS Ctlgrs483352816
Max Magnitude0
ClinVar
Risk rs483352816(T;T)
Alt rs483352816(T;T)
Reference rs483352816(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.46314939C>A
CLNSRC ClinVar
CLNACC RCV000087106.1,