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: rs118203933
rs118203933
CA2
0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06
CUI: C0345407
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 		0.810 1.000 1 1993 1993
dbSNP: rs201928238
rs201928238
CA2
0.851 0.160 8 85480683 missense variant G/A snv 1.4E-04 8.4E-05
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		0.020 1.000 2 2004 2009
dbSNP: rs118203933
rs118203933
CA2
0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06
CUI: C0005944
Disease: Metabolic Bone Disorder
Metabolic Bone Disorder 		0.010 1.000 1 2008 2008
dbSNP: rs118203933
rs118203933
CA2
0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 1.000 1 1992 1992
dbSNP: rs118203933
rs118203933
CA2
0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.010 1.000 1 2004 2004
dbSNP: rs118203933
rs118203933
CA2
0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 1992 1992
dbSNP: rs118203933
rs118203933
CA2
0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06
CUI: C1446648
Disease: Non-specific brain syndrome
Non-specific brain syndrome 		0.010 1.000 1 2004 2004
dbSNP: rs201928238
rs201928238
CA2
0.851 0.160 8 85480683 missense variant G/A snv 1.4E-04 8.4E-05
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		0.010 1.000 1 2009 2009
dbSNP: rs201928238
rs201928238
CA2
0.851 0.160 8 85480683 missense variant G/A snv 1.4E-04 8.4E-05
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.010 1.000 1 2009 2009
dbSNP: rs201928238
rs201928238
CA2
0.851 0.160 8 85480683 missense variant G/A snv 1.4E-04 8.4E-05
CUI: C0544848
Disease: Dystrophy, granular
Dystrophy, granular 		0.010 1.000 1 1998 1998
dbSNP: rs765669662
rs765669662
CA2 ; CA3-AS1
0.925 0.040 8 85465317 missense variant G/A;T snv 2.0E-05; 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2001 2001
dbSNP: rs765669662
rs765669662
CA2 ; CA3-AS1
0.925 0.040 8 85465317 missense variant G/A;T snv 2.0E-05; 4.0E-06
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 1.000 1 2001 2001
dbSNP: rs886063150
rs886063150
CA2
0.925 0.080 8 85477151 missense variant C/A;T snv 8.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 1998 1998
dbSNP: rs886063150
rs886063150
CA2
0.925 0.080 8 85477151 missense variant C/A;T snv 8.0E-06
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.010 1.000 1 1998 1998
dbSNP: rs886063150
rs886063150
CA2
0.925 0.080 8 85477151 missense variant C/A;T snv 8.0E-06
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.010 1.000 1 1998 1998