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: rs864309487
rs864309487
0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle
0.700 1.000 1 2015 2015