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: rs794728195
rs794728195
FBN1
10 0.752 0.200 15 48495155 missense variant G/A snv 0.700 0
dbSNP: rs121908668
rs121908668
LRP5
5 0.882 0.240 11 68357673 missense variant G/T snv 0.010 1.000 1 2003 2003
dbSNP: rs1566911957
rs1566911957
FBN1
8 0.776 0.200 15 48496204 frameshift variant GTACACATTCA/- delins 0.700 0
dbSNP: rs1566911709
rs1566911709
FBN1
15 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0
dbSNP: rs946579858
rs946579858
TCF4
1 1.000 0.120 18 55232669 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs1555397413
rs1555397413
FBN1
13 0.732 0.280 15 48470705 missense variant T/C snv 0.700 0