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: rs1221781038
rs1221781038
ANKRD11
0.925 0.280 16 89279695 stop gained G/A;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 17 2004 2017
dbSNP: rs1221781038
rs1221781038
ANKRD11
0.925 0.280 16 89279695 stop gained G/A;T snv
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.700 0