Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs863225257
rs863225257
ANKRD11
1.000 0.280 16 89280331 frameshift variant AC/- del
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.700 0