rs63750759, ABCC6

N. diseases: 11
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.
Pseudoxanthoma Elasticum
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
323 0.851 0.280 16 16154974 missense variant G/A;T snv 1.9E-04; 5.4E-06 0.810 1.000 16 2000 2015
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
CUI: C3276161
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
16 0.851 0.280 16 16154974 missense variant G/A;T snv 1.9E-04; 5.4E-06 0.800 1.000 1 2012 2012
Abnormally lax or hyperextensible skin
CUI: C4024736
Disease: Abnormally lax or hyperextensible skin
53 0.851 0.280 16 16154974 missense variant G/A;T snv 1.9E-04; 5.4E-06 0.700 0
Angina Pectoris
CUI: C0002962
Disease: Angina Pectoris
65 0.851 0.280 16 16154974 missense variant G/A;T snv 1.9E-04; 5.4E-06 0.700 0
Angioid Streaks
CUI: C0002982
Disease: Angioid Streaks
90 0.851 0.280 16 16154974 missense variant G/A;T snv 1.9E-04; 5.4E-06 0.700 0
Cutaneous plaque
CUI: C0241148
Disease: Cutaneous plaque
107 0.851 0.280 16 16154974 missense variant G/A;T snv 1.9E-04; 5.4E-06 0.700 0
Electrocardiogram abnormal
CUI: C0522055
Disease: Electrocardiogram abnormal
54 0.851 0.280 16 16154974 missense variant G/A;T snv 1.9E-04; 5.4E-06 0.700 0
Intermittent Claudication
CUI: C0021775
Disease: Intermittent Claudication
69 0.851 0.280 16 16154974 missense variant G/A;T snv 1.9E-04; 5.4E-06 0.700 0
Nephrolithiasis
CUI: C0392525
Disease: Nephrolithiasis
99 0.851 0.280 16 16154974 missense variant G/A;T snv 1.9E-04; 5.4E-06 0.700 0
Papule
CUI: C0332563
Disease: Papule
131 0.851 0.280 16 16154974 missense variant G/A;T snv 1.9E-04; 5.4E-06 0.700 0
Retinal Hemorrhage
CUI: C0035317
Disease: Retinal Hemorrhage
86 0.851 0.280 16 16154974 missense variant G/A;T snv 1.9E-04; 5.4E-06 0.700 0