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: rs28935469
rs28935469
FLNA
0.882 0.280 X 154367844 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0