rs1057519521, EBF3

N. diseases: 8
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.
Growth abnormality
CUI: C0262361
Disease: Growth abnormality
5 0.851 0.120 10 129963375 frameshift variant TCTC/- del 0.700 0
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
12 0.851 0.120 10 129963375 frameshift variant TCTC/- del 0.700 0
Recurrent urinary tract infection
CUI: C0262655
Disease: Recurrent urinary tract infection
21 0.851 0.120 10 129963375 frameshift variant TCTC/- del 0.700 0
Vesico-Ureteral Reflux
CUI: C0042580
Disease: Vesico-Ureteral Reflux
23 0.851 0.120 10 129963375 frameshift variant TCTC/- del 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.851 0.120 10 129963375 frameshift variant TCTC/- del 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.851 0.120 10 129963375 frameshift variant TCTC/- del 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.851 0.120 10 129963375 frameshift variant TCTC/- del 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.120 10 129963375 frameshift variant TCTC/- del 0.700 0