FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Myopia ×
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: rs1057518812
rs1057518812 		0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 0
dbSNP: rs1057518881
rs1057518881 		0.827 0.200 15 48513656 missense variant C/A;G;T snv
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 0
dbSNP: rs1057518909
rs1057518909 		0.925 0.120 15 48534099 frameshift variant CATT/- delins
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 0
dbSNP: rs113422242
rs113422242 		0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 0