FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Weill-Marchesani 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: rs727503056
rs727503056 		1.000 0.160 15 48467967 frameshift variant GTACCCCAGGCTTTACCCAGAGAACAGCAGCAGGAAGCTTTGGA/- delins
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 2 2002 2003
dbSNP: rs1441536824
rs1441536824 		0.925 0.240 15 48513551 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2014 2014