FBN2, fibrillin 2, 2201

N. diseases: 211; N. variants: 42
Disease: Tonometry ×
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: rs154001
rs154001 		1.000 0.040 5 128349443 missense variant C/G;T snv 0.73
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018