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rs201752283

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201752283(C;T)
Make rs201752283(T;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position44900319
GeneITGB2
is asnp
is mentioned by
dbSNPrs201752283
ebirs201752283
HLIrs201752283
Exacrs201752283
Varsomers201752283
Maprs201752283
PheGenIrs201752283
hapmaprs201752283
1000 genomesrs201752283
hgdprs201752283
ensemblrs201752283
gopubmedrs201752283
geneviewrs201752283
scholarrs201752283
googlers201752283
pharmgkbrs201752283
gwascentralrs201752283
openSNPrs201752283
23andMers201752283
23andMe allrs201752283
SNP Nexus

SNPshotrs201752283
SNPdbers201752283
MSV3drs201752283
GWAS Ctlgrs201752283
Max Magnitude0
ClinVar
Risk rs201752283(A,T;A,T)
Alt rs201752283(A,T;A,T)
Reference rs201752283(C;C)
Significance Pathogenic
Disease Leukocyte adhesion deficiency type 1
Variation info
Gene ITGB2
CLNDBN Leukocyte adhesion deficiency type 1
Reversed 0
HGVS NC_000021.8:g.46320234C>A; NC_000021.8:g.46320234C>T
CLNSRC ClinVar
CLNACC RCV000087128.1, RCV000087127.1,