Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs72653772
rs72653772
ABCC6
0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		0.700 0
dbSNP: rs72653772
rs72653772
ABCC6
0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticum, Incomplete 		0.700 0
dbSNP: rs72653772
rs72653772
ABCC6
0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04
CUI: C3276161
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 		0.700 0
dbSNP: rs72653772
rs72653772
ABCC6
0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.700 0
dbSNP: rs72653772
rs72653772
ABCC6
0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04
CUI: C0332563
Disease: Papule
Papule 		0.700 0
dbSNP: rs72653772
rs72653772
ABCC6
0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		0.700 0
dbSNP: rs72653772
rs72653772
ABCC6
0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.700 0
dbSNP: rs72653772
rs72653772
ABCC6
0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris 		0.700 0
dbSNP: rs72653772
rs72653772
ABCC6
0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.700 0
dbSNP: rs72653772
rs72653772
ABCC6
0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04
CUI: C1867453
Disease: Peau d'orange retinal changes
Peau d'orange retinal changes 		0.700 0
dbSNP: rs72653772
rs72653772
ABCC6
0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs72653772
rs72653772
ABCC6
0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04
CUI: C0021775
Disease: Intermittent Claudication
Intermittent Claudication 		0.700 0
dbSNP: rs72653772
rs72653772
ABCC6
0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04
CUI: C0241148
Disease: Cutaneous plaque
Cutaneous plaque 		0.700 0
dbSNP: rs72653772
rs72653772
ABCC6
0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal 		0.700 0
dbSNP: rs72653772
rs72653772
ABCC6
0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04
CUI: C4024736
Disease: Abnormally lax or hyperextensible skin
Abnormally lax or hyperextensible skin 		0.700 0
dbSNP: rs72653772
rs72653772
ABCC6
0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.700 0