Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137854468
rs137854468
FBN1
0.851 0.160 15 48487396 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.810 1.000 20 1976 2013