rs113001196, FBN1

N. diseases: 5
Disease: Dysmorphic features ×
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.882 0.160 15 48432947 stop gained G/A snv 0.700 1.000 29 1986 2016