FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Dysmorphic features ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113001196
rs113001196 		0.882 0.160 15 48432947 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 29 1986 2016
dbSNP: rs1555393647
rs1555393647 		1.000 15 48412588 frameshift variant -/T delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 29 1986 2016
dbSNP: rs387906623
rs387906623 		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: rs869025411
rs869025411 		0.925 0.160 15 48432911 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 29 1986 2016