Gene: FBN1 ×
Source: INFERRED ×
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: rs545317462
rs545317462
FBN1
1 15 48530561 intron variant TT/-;T;TTT;TTTT;TTTTT delins 0.700 1.000 1 2018 2018