rs387906623, FBN1

N. diseases: 4
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 0.120 15 48460258 missense variant C/T snv 0.700 1.000 29 1986 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.882 0.120 15 48460258 missense variant C/T snv 0.700 1.000 29 1986 2016
GELEOPHYSIC DYSPLASIA 2
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
27 0.882 0.120 15 48460258 missense variant C/T snv 0.700 1.000 1 2015 2015
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.882 0.120 15 48460258 missense variant C/T snv 0.010 1.000 1 2017 2017