rs1558519119, BCL11A

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.
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
45 0.925 0.120 2 60546061 frameshift variant C/- del 0.700 0
Cerebellar vermis hypoplasia
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
26 0.925 0.120 2 60546061 frameshift variant C/- del 0.700 0
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
CUI: C4310833
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
9 0.925 0.120 2 60546061 frameshift variant C/- del 0.700 0