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.
Cardiomyopathy, Familial Hypertrophic, 11
CUI: C2677506
Disease: Cardiomyopathy, Familial Hypertrophic, 11
9 0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06 0.800 1.000 11 2000 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 8 2000 2014
Atrial Septal Defect 5
CUI: C2748552
Disease: Atrial Septal Defect 5
4 0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 5 2000 2011
CARDIOMYOPATHY, DILATED, 1R
CUI: C3150681
Disease: CARDIOMYOPATHY, DILATED, 1R
4 0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 5 2000 2011
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
LEFT VENTRICULAR NONCOMPACTION 4
CUI: C3150682
Disease: LEFT VENTRICULAR NONCOMPACTION 4
1 0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
Apical hypertrophic cardiomyopathy
CUI: C4732796
Disease: Apical hypertrophic cardiomyopathy
3 0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
Heart Septal Defects
CUI: C0018816
Disease: Heart Septal Defects
12 0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007