SPAST, spastin, 6683

N. diseases: 138; N. variants: 113
Disease: Dysmorphic features ×
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: rs1553317028
rs1553317028 		1.000 2 32128440 inframe deletion CTT/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 21 1999 2016