rs730882198, SPART

N. diseases: 6
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.
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 0.700 0
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 0.700 0