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.
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 0.700 1.000 10 2009 2016
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
CUI: C3279738
Disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
7 1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 0.700 1.000 4 2011 2015
Absent speech
CUI: C1854882
Disease: Absent speech
72 1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 0.700 1.000 3 2011 2012
Growth delay
CUI: C0456070
Disease: Growth delay
40 1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 0.700 1.000 3 2011 2012
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 0.700 1.000 3 2011 2012