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: rs121908668
rs121908668
LRP5
5 0.882 0.240 11 68357673 missense variant G/T snv 0.010 1.000 1 2003 2003
dbSNP: rs121908673
rs121908673
LRP5
2 0.925 0.160 11 68363818 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs1566903931
rs1566903931
FBN1
1 1.000 0.120 15 48465619 missense variant AC/CA mnv 0.700 1.000 1 2005 2005
dbSNP: rs746686599
rs746686599
TNFSF11
1 1.000 0.120 13 42606725 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs776998846
rs776998846
DMD
1 1.000 0.120 X 32365169 missense variant C/A;T snv 2.1E-04 0.010 1.000 1 2007 2007
dbSNP: rs946579858
rs946579858
TCF4
1 1.000 0.120 18 55232669 missense variant T/C snv 0.010 1.000 1 2007 2007