Source: ALL

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: rs387906623
rs387906623
FBN1
0.882 0.120 15 48460258 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 29 1986 2016
dbSNP: rs387906623
rs387906623
FBN1
0.882 0.120 15 48460258 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 29 1986 2016
dbSNP: rs387906623
rs387906623
FBN1
0.882 0.120 15 48460258 missense variant C/T snv
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2 		0.700 1.000 1 2015 2015
dbSNP: rs387906623
rs387906623
FBN1
0.882 0.120 15 48460258 missense variant C/T snv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 1.000 1 2017 2017