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rs235330

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(T;T) 0 common in clinvar
Make rs235330(A;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position44894992
GeneITGB2
is asnp
is mentioned by
dbSNPrs235330
ebirs235330
HLIrs235330
Exacrs235330
Varsomers235330
Maprs235330
PheGenIrs235330
hapmaprs235330
1000 genomesrs235330
hgdprs235330
ensemblrs235330
gopubmedrs235330
geneviewrs235330
scholarrs235330
googlers235330
pharmgkbrs235330
gwascentralrs235330
openSNPrs235330
23andMers235330
23andMe allrs235330
SNP Nexus

SNPshotrs235330
SNPdbers235330
MSV3drs235330
GWAS Ctlgrs235330
Max Magnitude0
? (A;A) (A;T) (T;T) 28


Venter snp
Source plos
Gene ITGB2
allele A
frequency 1
sift
HuRef 1103643132963
Disease Association Defects in ITGB2 are the cause of leukocyte adhesion deficiency type I (LAD1) (MIM:116920). LAD1 patients have recurrent bacterial infections and their leukocytes are deficient in a wide range of adhesion-dependent functions.



GET Evidence
ITGB2-Q354H
aa_change Gln354His
aa_change_short Q354H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.999907
summary



ClinVar
Risk rs235330(A;A)
Alt rs235330(A;A)
Reference rs235330(T;T)
Significance Untested
Disease Leukocyte adhesion deficiency type 1
Variation info
Gene ITGB2
CLNDBN Leukocyte adhesion deficiency type 1
Reversed 0
HGVS NC_000021.8:g.46314907T>A
CLNSRC ClinVar
CLNACC RCV000087107.1,