rs118203933, CA2

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
CUI: C0345407
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
6 0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 0.810 1.000 1 1993 1993
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 0.010 1.000 1 2004 2004
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 0.010 1.000 1 1992 1992
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 0.010 1.000 1 1992 1992
Metabolic Bone Disorder
CUI: C0005944
Disease: Metabolic Bone Disorder
1 0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 0.010 1.000 1 2008 2008
Non-specific brain syndrome
CUI: C1446648
Disease: Non-specific brain syndrome
1 0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 0.010 1.000 1 2004 2004