FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Connective Tissue Diseases ×
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: rs137854464
rs137854464 		0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs137854468
rs137854468 		0.851 0.160 15 48487396 missense variant C/T snv
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		Skin and Connective Tissue Diseases 0.010 1.000 1 2001 2001