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: rs1555521799
rs1555521799
ANKRD11
1.000 0.280 16 89270872 missense variant G/T snv
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.700 0
dbSNP: rs1555521799
rs1555521799
ANKRD11
1.000 0.280 16 89270872 missense variant G/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0