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: rs1131691804
rs1131691804
FBN1
8 0.807 0.200 15 48463123 missense variant G/A snv 0.700 1.000 2 2011 2016
dbSNP: rs113994121
rs113994121
ADAMTSL2
2 0.925 0.080 9 133540625 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs113994122
rs113994122
ADAMTSL2
2 0.925 0.080 9 133539799 missense variant G/A;T snv 1.3E-05; 1.3E-05 0.700 0
dbSNP: rs113994123
rs113994123
ADAMTSL2
2 0.925 0.080 9 133539801 missense variant G/A snv 6.4E-06 2.2E-05 0.700 0
dbSNP: rs113994124
rs113994124
ADAMTSL2
2 0.925 0.080 9 133570346 missense variant G/A snv 0.700 0
dbSNP: rs113994125
rs113994125
ADAMTSL2
2 0.925 0.080 9 133570501 stop gained G/A snv 0.700 0
dbSNP: rs387907065
rs387907065
ADAMTSL2
2 0.925 0.080 9 133540980 missense variant C/T snv 0.010 1.000 1 2010 2010