rs1057519518, EBF3

N. diseases: 1
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 129963462 missense variant T/C snv 0.800 0