Gene: FBN1 ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113001196
rs113001196
FBN1
5 0.882 0.160 15 48432947 stop gained G/A snv 0.700 1.000 29 1986 2016
dbSNP: rs1555393647
rs1555393647
FBN1
1 1.000 15 48412588 frameshift variant -/T delins 0.700 1.000 29 1986 2016
dbSNP: rs387906623
rs387906623
FBN1
3 0.882 0.120 15 48460258 missense variant C/T snv 0.700 1.000 29 1986 2016
dbSNP: rs869025411
rs869025411
FBN1
4 0.925 0.160 15 48432911 missense variant A/G snv 0.700 1.000 29 1986 2016