rs63750428, ABCC6

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.
Pseudoxanthoma Elasticum
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
323 0.925 0.200 16 16154767 missense variant G/A;T snv 4.9E-05 0.800 1.000 15 2000 2015
Abnormally lax or hyperextensible skin
CUI: C4024736
Disease: Abnormally lax or hyperextensible skin
53 0.925 0.200 16 16154767 missense variant G/A;T snv 4.9E-05 0.700 0
Angina Pectoris
CUI: C0002962
Disease: Angina Pectoris
65 0.925 0.200 16 16154767 missense variant G/A;T snv 4.9E-05 0.700 0
Angioid Streaks
CUI: C0002982
Disease: Angioid Streaks
90 0.925 0.200 16 16154767 missense variant G/A;T snv 4.9E-05 0.700 0
Electrocardiogram abnormal
CUI: C0522055
Disease: Electrocardiogram abnormal
54 0.925 0.200 16 16154767 missense variant G/A;T snv 4.9E-05 0.700 0
Intermittent Claudication
CUI: C0021775
Disease: Intermittent Claudication
69 0.925 0.200 16 16154767 missense variant G/A;T snv 4.9E-05 0.700 0