Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs794728208
rs794728208
FBN1
8 0.776 0.200 15 48485374 missense variant C/T snv 0.700 0
dbSNP: rs794728334
rs794728334
FBN1
9 0.763 0.200 15 48437069 stop gained C/A;T snv 0.700 0
dbSNP: rs1131691804
rs1131691804
FBN1
8 0.807 0.200 15 48463123 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1177684571
rs1177684571
EGF
1 1.000 0.080 4 109976199 missense variant G/C;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1323910952
rs1323910952
LTBP3
1 1.000 0.080 11 65546882 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1554974135
rs1554974135
LTBP3
2 0.925 0.080 11 65547459 missense variant G/C snv 0.010 1.000 1 2016 2016