Source: ALL

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: rs886039900
rs886039900
AHDC1
0.925 0.320 1 27549887 frameshift variant C/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0