rs72653706, ABCC6

N. diseases: 32
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 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.800 1.000 11 2000 2014
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
591 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.710 1.000 1 2010 2010
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
680 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.710 1.000 1 2004 2004
Abnormally lax or hyperextensible skin
CUI: C4024736
Disease: Abnormally lax or hyperextensible skin
53 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
Angina Pectoris
CUI: C0002962
Disease: Angina Pectoris
65 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
Angioid Streaks
CUI: C0002982
Disease: Angioid Streaks
90 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
Arterial calcification
CUI: C1168153
Disease: Arterial calcification
1 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
CUI: C3276161
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
16 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
Celiac Disease
CUI: C0007570
Disease: Celiac Disease
263 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
Cutaneous plaque
CUI: C0241148
Disease: Cutaneous plaque
107 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
Cutis Laxa
CUI: C0010495
Disease: Cutis Laxa
21 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
Electrocardiogram abnormal
CUI: C0522055
Disease: Electrocardiogram abnormal
54 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
Gastrointestinal Hemorrhage
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
24 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
Hypoparathyroidism
CUI: C0020626
Disease: Hypoparathyroidism
15 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
Intermittent Claudication
CUI: C0021775
Disease: Intermittent Claudication
69 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
Nephrolithiasis
CUI: C0392525
Disease: Nephrolithiasis
99 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
Papule
CUI: C0332563
Disease: Papule
131 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
Peau d'orange retinal changes
CUI: C1867453
Disease: Peau d'orange retinal changes
16 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
Pseudoxanthoma Elasticum, Incomplete
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
6 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
Retinal Hemorrhage
CUI: C0035317
Disease: Retinal Hemorrhage
86 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
440 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.050 1.000 5 2002 2013
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
1577 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.050 1.000 5 2002 2013
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.050 0.800 5 2002 2013
Nevus elasticus
CUI: C0473583
Disease: Nevus elasticus
5 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.040 1.000 4 2003 2014