Source: ALL
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: rs1555396760
rs1555396760
FBN1
2 0.925 0.160 15 48463102 frameshift variant -/G delins 0.700 0