Have questions? Visit https://www.reddit.com/r/SNPedia

rs483352817

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs483352817(-;-)
Make rs483352817(-;C)
ReferenceGRCh38 38.1/142
Chromosome21
Position44893485
GeneITGB2
is asnp
is mentioned by
dbSNPrs483352817
ebirs483352817
HLIrs483352817
Exacrs483352817
Varsomers483352817
Maprs483352817
PheGenIrs483352817
hapmaprs483352817
1000 genomesrs483352817
hgdprs483352817
ensemblrs483352817
gopubmedrs483352817
geneviewrs483352817
scholarrs483352817
googlers483352817
pharmgkbrs483352817
gwascentralrs483352817
openSNPrs483352817
23andMers483352817
23andMe allrs483352817
SNP Nexus

SNPshotrs483352817
SNPdbers483352817
MSV3drs483352817
GWAS Ctlgrs483352817
Max Magnitude0
ClinVar
Risk rs483352817(;)
Alt rs483352817(;)
Reference rs483352817(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.46313400delG
CLNSRC ClinVar
CLNACC RCV000087109.1,