FBLN5, fibulin 5, 10516

N. diseases: 150; N. variants: 20
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION ×
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: rs121434299
rs121434299 		1.000 14 91937148 missense variant C/G snv 1.2E-05 2.1E-05
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.800 1.000 4 2004 2010
dbSNP: rs121434300
rs121434300 		1.000 14 91937114 missense variant C/T snv 2.0E-05 2.1E-05
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.800 1.000 4 2004 2010
dbSNP: rs121434301
rs121434301 		1.000 14 91937067 missense variant G/A;C snv 8.0E-06
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.800 1.000 4 2004 2010
dbSNP: rs121434302
rs121434302 		1.000 14 91877585 missense variant C/T snv 3.6E-05 3.5E-05
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.800 1.000 4 2004 2010
dbSNP: rs121434303
rs121434303 		0.882 0.120 14 91870336 missense variant C/T snv
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.800 1.000 4 2004 2010
dbSNP: rs28939072
rs28939072 		0.925 0.040 14 91891334 missense variant A/G snv
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.800 1.000 4 2004 2010
dbSNP: rs28939073
rs28939073 		1.000 14 91877621 missense variant G/A snv 7.6E-05 9.8E-05
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.800 1.000 4 2004 2010
dbSNP: rs144288844
rs144288844 		1.000 14 91937058 missense variant C/G;T snv 3.8E-04
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.800 1.000 2 2011 2013
dbSNP: rs864309526
rs864309526 		0.925 0.120 14 91877555 missense variant G/A snv
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.800 1.000 2 2011 2013
dbSNP: rs149396611
rs149396611 		0.851 0.120 14 91883017 missense variant C/T snv 2.6E-04 2.5E-04
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.700 1.000 6 2004 2013
dbSNP: rs141200859
rs141200859 		1.000 14 91937183 missense variant G/A snv 1.8E-04 2.6E-04
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.700 0
dbSNP: rs61734479
rs61734479 		1.000 14 91936950 missense variant C/T snv 1.8E-03 1.9E-03
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 		0.700 0