rs1057518821, SLC2A1

N. diseases: 5
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.
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 1.000 1 42930671 frameshift variant -/C delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 1.000 1 42930671 frameshift variant -/C delins 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 1.000 1 42930671 frameshift variant -/C delins 0.700 0
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 1.000 1 42930671 frameshift variant -/C delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 1 42930671 frameshift variant -/C delins 0.700 0