NLRP2, NLR family pyrin domain containing 2, 55655

N. diseases: 155; N. variants: 21
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143026800
rs143026800
Entrez Id: 55655
Gene Symbol: NLRP2
NLRP2
CUI: C1858391
Disease:
ATAXIA-TELANGIECTASIA-LIKE DISORDER 		0.010 GeneticVariation BEFREE W248R differs from other ataxia telangiectasia-like disorder analog alleles by the reduced stability of its interaction with Rad50 in cell lysates. 23080121 2012