FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
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: rs1566902569
rs1566902569
0.882 0.160 15 48460299 missense variant C/A snv
CUI: C0241165
Disease: Thick skin
Thick skin
0.700 0