FBN2, fibrillin 2, 2201

N. diseases: 211; N. variants: 42
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: rs200060005
rs200060005
1.000 5 128338975 missense variant C/G;T snv 4.0E-06; 4.4E-05
CUI: C4015286
Disease: MACULAR DEGENERATION, EARLY-ONSET
MACULAR DEGENERATION, EARLY-ONSET
0.700 1.000 1 2014 2014
dbSNP: rs149054177
rs149054177
1.000 5 128335562 missense variant A/G snv 5.2E-05 2.9E-04
CUI: C4015286
Disease: MACULAR DEGENERATION, EARLY-ONSET
MACULAR DEGENERATION, EARLY-ONSET
0.700 0