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: rs267607216
rs267607216
LEMD3
4 0.851 0.120 12 65245931 stop gained G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs267607217
rs267607217
LEMD3
5 0.827 0.120 12 65239970 stop gained C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs775804762
rs775804762
EXT1
1 1.000 0.080 8 117807368 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010