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rs483352819

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs483352819(-;-)
Make rs483352819(-;A)
ReferenceGRCh38 38.1/142
Chromosome21
Position44888866
GeneITGB2
is asnp
is mentioned by
dbSNPrs483352819
ebirs483352819
HLIrs483352819
Exacrs483352819
Varsomers483352819
Maprs483352819
PheGenIrs483352819
hapmaprs483352819
1000 genomesrs483352819
hgdprs483352819
ensemblrs483352819
gopubmedrs483352819
geneviewrs483352819
scholarrs483352819
googlers483352819
pharmgkbrs483352819
gwascentralrs483352819
openSNPrs483352819
23andMers483352819
23andMe allrs483352819
SNP Nexus

SNPshotrs483352819
SNPdbers483352819
MSV3drs483352819
GWAS Ctlgrs483352819
Max Magnitude0
ClinVar
Risk rs483352819(;)
Alt rs483352819(;)
Reference rs483352819(A;A)
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.46308781delT
CLNSRC ClinVar
CLNACC RCV000087112.1,