Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267607216
rs267607216
LEMD3
0.851 0.120 12 65245931 stop gained G/A snv
CUI: C1833699
Disease: Osteopoikilosis, Isolated
Osteopoikilosis, Isolated 		0.010 1.000 1 2009 2009
dbSNP: rs267607217
rs267607217
LEMD3
0.827 0.120 12 65239970 stop gained C/T snv
CUI: C1833699
Disease: Osteopoikilosis, Isolated
Osteopoikilosis, Isolated 		0.010 1.000 1 2009 2009