rs118203993, ORAI1

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.
Immune dysfunction with T-cell inactivation due to calcium entry defect 1
CUI: C2748568
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
5 0.925 0.120 12 121627018 missense variant C/T snv 0.800 1.000 2 2005 2006
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
46 0.925 0.120 12 121627018 missense variant C/T snv 0.010 1.000 1 2009 2009