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rs137852618

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852618(A;A)
Make rs137852618(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position44900400
GeneITGB2
is asnp
is mentioned by
dbSNPrs137852618
ebirs137852618
HLIrs137852618
Exacrs137852618
Varsomers137852618
Maprs137852618
PheGenIrs137852618
hapmaprs137852618
1000 genomesrs137852618
hgdprs137852618
ensemblrs137852618
gopubmedrs137852618
geneviewrs137852618
scholarrs137852618
googlers137852618
pharmgkbrs137852618
gwascentralrs137852618
openSNPrs137852618
23andMers137852618
23andMe allrs137852618
SNP Nexus

SNPshotrs137852618
SNPdbers137852618
MSV3drs137852618
GWAS Ctlgrs137852618
Max Magnitude0
OMIM600065
Desc
Variant0014
Relatedalso
ClinVar
Risk rs137852618(A;A)
Alt rs137852618(A;A)
Reference rs137852618(G;G)
Significance Pathogenic
Disease Leukocyte adhesion deficiency
Variation info
Gene ITGB2
CLNDBN Leukocyte adhesion deficiency
Reversed 1
HGVS NC_000021.8:g.46320315C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010079.2,