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rs2070947

From SNPedia

Orientationminus
Stabilizedminus
Make rs2070947(C;C)
Make rs2070947(C;T)
Make rs2070947(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position44920928
GeneITGB2, TMEM26
is asnp
is mentioned by
dbSNPrs2070947
ebirs2070947
HLIrs2070947
Exacrs2070947
Varsomers2070947
Maprs2070947
PheGenIrs2070947
hapmaprs2070947
1000 genomesrs2070947
hgdprs2070947
ensemblrs2070947
gopubmedrs2070947
geneviewrs2070947
scholarrs2070947
googlers2070947
pharmgkbrs2070947
gwascentralrs2070947
openSNPrs2070947
23andMers2070947
23andMe allrs2070947
SNP Nexus

SNPshotrs2070947
SNPdbers2070947
MSV3drs2070947
GWAS Ctlgrs2070947
GMAF0.2002
Max Magnitude
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene ITGB2
allele G
frequency 0.203
sift
HuRef 1103643133004
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.



[PMID 23388428] Association study of integrins beta 1 and beta 2 gene polymorphism and papillary thyroid cancer