FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Geleophysic dysplasia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1131691804
rs1131691804 		0.807 0.200 15 48463123 missense variant G/A snv
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2011 2016