rs143026800, NLRP2

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
ATAXIA-TELANGIECTASIA-LIKE DISORDER
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
13 0.925 0.200 19 54982440 missense variant A/T snv 8.0E-06 3.5E-05 0.010 1.000 1 2012 2012
Ataxia-Telangiectasisa-Like Disorder 1
CUI: C4012790
Disease: Ataxia-Telangiectasisa-Like Disorder 1
15 0.925 0.200 19 54982440 missense variant A/T snv 8.0E-06 3.5E-05 0.010 1.000 1 2012 2012