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: rs113871094
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0