FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Ectopia Lentis ×
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: rs1057518883
rs1057518883 		0.851 0.240 15 48415571 missense variant A/C snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1057518973
rs1057518973 		0.925 0.120 15 48596343 missense variant A/C;G snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1555395001
rs1555395001 		0.807 0.200 15 48434600 missense variant A/G snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1566913974
rs1566913974 		0.807 0.200 15 48505029 missense variant A/C snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs193922219
rs193922219 		0.763 0.280 15 48446701 splice region variant C/A;T snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs727503057
rs727503057 		0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs137854480
rs137854480 		0.742 0.200 15 48537629 missense variant G/A snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2004 2007
dbSNP: rs137854464
rs137854464 		0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 1999 1999
dbSNP: rs137854467
rs137854467 		0.790 0.280 15 48600217 missense variant G/A snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs137854479
rs137854479 		0.925 0.200 15 48497298 missense variant T/C snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs193922185
rs193922185 		0.752 0.200 15 48505037 missense variant G/A snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs730880099
rs730880099 		0.742 0.200 15 48510125 missense variant G/A snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2013 2013