Disease: Large head (disorder) ×
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: rs1064793829
rs1064793829 		0.882 0.160 1 153816571 frameshift variant A/- delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs1557781252
rs1557781252 		0.742 0.320 1 153816414 stop gained G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0