rs63750273, ABCC6

N. diseases: 9
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.
Angioid Streaks
CUI: C0002982
Disease: Angioid Streaks
90 0.851 0.240 16 16157810 splice acceptor variant C/T snv 4.1E-05 1.4E-05 0.700 0
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
CUI: C3276161
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
16 0.851 0.240 16 16157810 splice acceptor variant C/T snv 4.1E-05 1.4E-05 0.700 0
Cutaneous plaque
CUI: C0241148
Disease: Cutaneous plaque
107 0.851 0.240 16 16157810 splice acceptor variant C/T snv 4.1E-05 1.4E-05 0.700 0
Gastrointestinal Hemorrhage
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
24 0.851 0.240 16 16157810 splice acceptor variant C/T snv 4.1E-05 1.4E-05 0.700 0
Intermittent Claudication
CUI: C0021775
Disease: Intermittent Claudication
69 0.851 0.240 16 16157810 splice acceptor variant C/T snv 4.1E-05 1.4E-05 0.700 0
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
680 0.851 0.240 16 16157810 splice acceptor variant C/T snv 4.1E-05 1.4E-05 0.700 0
Papule
CUI: C0332563
Disease: Papule
131 0.851 0.240 16 16157810 splice acceptor variant C/T snv 4.1E-05 1.4E-05 0.700 0
Pseudoxanthoma Elasticum
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
323 0.851 0.240 16 16157810 splice acceptor variant C/T snv 4.1E-05 1.4E-05 0.700 0
Retinal Hemorrhage
CUI: C0035317
Disease: Retinal Hemorrhage
86 0.851 0.240 16 16157810 splice acceptor variant C/T snv 4.1E-05 1.4E-05 0.700 0