rs750610248, BCL11B

N. diseases: 3
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.
IMMUNODEFICIENCY 49
CUI: C4310656
Disease: IMMUNODEFICIENCY 49
2 0.882 0.200 14 99175513 missense variant A/C;G snv 4.1E-06 0.800 1.000 2 2016 2018
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
45 0.882 0.200 14 99175513 missense variant A/C;G snv 4.1E-06 0.700 1.000 1 2016 2016
Combined immunodeficiency
CUI: C0494261
Disease: Combined immunodeficiency
11 0.882 0.200 14 99175513 missense variant A/C;G snv 4.1E-06 0.700 1.000 1 2016 2016