rs72650700, ABCC6

N. diseases: 12
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 0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.710 1.000 3 2001 2016
Pseudoxanthoma Elasticum, Incomplete
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
6 0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.700 1.000 3 2001 2016
Abnormally lax or hyperextensible skin
CUI: C4024736
Disease: Abnormally lax or hyperextensible skin
53 0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.700 0
Angina Pectoris
CUI: C0002962
Disease: Angina Pectoris
65 0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.700 0
Angioid Streaks
CUI: C0002982
Disease: Angioid Streaks
90 0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.700 0
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
CUI: C3276161
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
16 0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.700 0
Cutaneous plaque
CUI: C0241148
Disease: Cutaneous plaque
107 0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.700 0
Electrocardiogram abnormal
CUI: C0522055
Disease: Electrocardiogram abnormal
54 0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.700 0
Intermittent Claudication
CUI: C0021775
Disease: Intermittent Claudication
69 0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.700 0
Papule
CUI: C0332563
Disease: Papule
131 0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.700 0
Retinal Hemorrhage
CUI: C0035317
Disease: Retinal Hemorrhage
86 0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.700 0
Nevus elasticus
CUI: C0473583
Disease: Nevus elasticus
5 0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.010 1.000 1 2001 2001