Source: ALL

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: rs121912955
rs121912955
MMP2
0.925 0.200 16 55491830 missense variant G/A snv
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME 		0.800 1.000 3 2001 2006
dbSNP: rs121912955
rs121912955
MMP2
0.925 0.200 16 55491830 missense variant G/A snv
CUI: C0432289
Disease: Winchester syndrome (disorder)
Winchester syndrome (disorder) 		0.010 1.000 1 2005 2005