FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Stiff Skin Syndrome ×
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: rs267606800
rs267606800 		0.882 0.160 15 48467994 missense variant C/G;T snv
CUI: C1861456
Disease: Stiff Skin Syndrome
Stiff Skin Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0