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: rs587777011
rs587777011
FAM111A
0.925 0.160 11 59153374 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0