SPART, spartin, 23111

N. diseases: 110; N. variants: 6
Disease: Global developmental delay ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs730882198
rs730882198 		0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0