SPART, spartin, 23111

N. diseases: 110; N. variants: 6
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: rs775736341
rs775736341 		0.925 0.080 13 36335466 frameshift variant AT/- del 6.8E-05 9.8E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 1967 2015