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: rs727503056
rs727503056
FBN1
1 1.000 0.160 15 48467967 frameshift variant GTACCCCAGGCTTTACCCAGAGAACAGCAGCAGGAAGCTTTGGA/- delins 0.700 1.000 2 2002 2003