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: rs387906536
rs387906536
LYZ
0.851 0.200 12 69350215 missense variant T/A;C snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.030 1.000 3 2014 2019
dbSNP: rs1800973
rs1800973
LYZ
0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.020 1.000 2 2005 2006
dbSNP: rs387906535
rs387906535
LYZ
0.925 0.080 12 69350170 missense variant G/C snv 7.0E-06
CUI: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis 		0.020 1.000 2 2004 2008
dbSNP: rs387906536
rs387906536
LYZ
0.851 0.200 12 69350215 missense variant T/A;C snv
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		0.020 1.000 2 2002 2019
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
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: 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: 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: 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: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis 		0.010 1.000 1 2004 2004
dbSNP: rs121913549
rs121913549
LYZ
0.882 0.200 12 69350194 missense variant T/A snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.010 1.000 1 2016 2016
dbSNP: rs121913549
rs121913549
LYZ
0.882 0.200 12 69350194 missense variant T/A snv
CUI: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy 		0.010 1.000 1 2003 2003
dbSNP: rs1363507110
rs1363507110
LYZ
1.000 0.080 12 69350201 missense variant T/C snv 1.2E-05
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		0.010 1.000 1 2010 2010
dbSNP: rs1454603223
rs1454603223
LYZ
1.000 0.040 12 69353160 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.010 1.000 1 2006 2006
dbSNP: rs1800973
rs1800973
LYZ
0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02
CUI: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy 		0.010 < 0.001 1 2003 2003
dbSNP: rs1800973
rs1800973
LYZ
0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02
CUI: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis 		0.010 1.000 1 2008 2008
dbSNP: rs387906536
rs387906536
LYZ
0.851 0.200 12 69350215 missense variant T/A;C snv
CUI: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy 		0.010 1.000 1 2019 2019
dbSNP: rs387906536
rs387906536
LYZ
0.851 0.200 12 69350215 missense variant T/A;C snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.010 1.000 1 2014 2014
dbSNP: rs387906536
rs387906536
LYZ
0.851 0.200 12 69350215 missense variant T/A;C snv
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.010 1.000 1 2002 2002