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: rs6595838
rs6595838
5 128532506 intron variant G/A snv 0.41
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 3 2017 2019
dbSNP: rs17677603
rs17677603
5 128521800 intron variant A/G snv 0.50
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
dbSNP: rs7705439
rs7705439
5 128488892 intron variant A/G snv 0.51
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2018 2018