rs80356517, 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.
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
19 0.925 0.080 3 58108461 stop gained C/T snv 4.0E-06 0.700 1.000 1 2015 2015
Atelosteogenesis, type 1
CUI: C0265283
Disease: Atelosteogenesis, type 1
24 0.925 0.080 3 58108461 stop gained C/T snv 4.0E-06 0.700 0