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: rs1555405528
rs1555405528
FBN1
2 0.925 0.160 15 48610737 frameshift variant -/G delins 0.700 0