rs80356515, FLNB

N. diseases: 2
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.
Larsen syndrome
CUI: C0175778
Disease: Larsen syndrome
14 0.925 0.080 3 58136115 missense variant C/T snv 0.700 1.000 2 2004 2007
Atelosteogenesis, type 1
CUI: C0265283
Disease: Atelosteogenesis, type 1
24 0.925 0.080 3 58136115 missense variant C/T snv 0.700 0