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: rs121913547
rs121913547
LYZ
0.807 0.200 12 69350192 missense variant T/C snv
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid 		0.010 1.000 1 2004 2004
dbSNP: rs121913547
rs121913547
LYZ
0.807 0.200 12 69350192 missense variant T/C snv
CUI: C0031256
Disease: Petechiae
Petechiae 		0.010 1.000 1 1999 1999
dbSNP: rs121913547
rs121913547
LYZ
0.807 0.200 12 69350192 missense variant T/C snv
CUI: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis 		0.010 1.000 1 2004 2004
dbSNP: rs121913547
rs121913547
LYZ
0.807 0.200 12 69350192 missense variant T/C snv
CUI: C0241144
Disease: Petechiae of skin
Petechiae of skin 		0.010 1.000 1 1999 1999
dbSNP: rs121913547
rs121913547
LYZ
0.807 0.200 12 69350192 missense variant T/C snv
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		0.010 1.000 1 2010 2010
dbSNP: rs121913547
rs121913547
LYZ
0.807 0.200 12 69350192 missense variant T/C snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.010 1.000 1 1999 1999