rs1057519522, EBF3

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.
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
12 1.000 10 129877788 stop gained G/A snv 0.700 0
Neurodevelopmental Disorders
CUI: C1535926
Disease: Neurodevelopmental Disorders
14 1.000 10 129877788 stop gained G/A snv 0.700 0