FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Linear atrophy ×
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: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		Pathological Conditions, Signs and Symptoms 0.700 0