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: rs1554122802
rs1554122802
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C3150613
Disease: Long toe
Long toe
0.700 0