FBN1, fibrillin 1, 2200

N. diseases: 137; N. variants: 1044
Disease: Lens Subluxation ×
Source: CLINVAR ×
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: rs1057518881
rs1057518881 		0.827 0.200 15 48513656 missense variant C/A;G;T snv
CUI: C0023316
Disease: Lens Subluxation
Lens Subluxation 		Eye Diseases 0.700 0
dbSNP: rs137854467
rs137854467 		0.790 0.280 15 48600217 missense variant G/A snv
CUI: C0023316
Disease: Lens Subluxation
Lens Subluxation 		Eye Diseases 0.700 0