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: rs28939702
rs28939702
ABCC6
0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.800 1.000 15 2000 2015
dbSNP: rs28939702
rs28939702
ABCC6
0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.700 0
dbSNP: rs28939702
rs28939702
ABCC6
0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05
CUI: C4024736
Disease: Abnormally lax or hyperextensible skin
Abnormally lax or hyperextensible skin 		0.700 0
dbSNP: rs28939702
rs28939702
ABCC6
0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris 		0.700 0
dbSNP: rs28939702
rs28939702
ABCC6
0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		0.700 0
dbSNP: rs28939702
rs28939702
ABCC6
0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05
CUI: C1867453
Disease: Peau d'orange retinal changes
Peau d'orange retinal changes 		0.700 0
dbSNP: rs28939702
rs28939702
ABCC6
0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal 		0.700 0
dbSNP: rs28939702
rs28939702
ABCC6
0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.700 0
dbSNP: rs28939702
rs28939702
ABCC6
0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.700 0
dbSNP: rs28939702
rs28939702
ABCC6
0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05
CUI: C0241148
Disease: Cutaneous plaque
Cutaneous plaque 		0.700 0
dbSNP: rs28939702
rs28939702
ABCC6
0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05
CUI: C0021775
Disease: Intermittent Claudication
Intermittent Claudication 		0.700 0
dbSNP: rs28939702
rs28939702
ABCC6
0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05
CUI: C0332563
Disease: Papule
Papule 		0.700 0
dbSNP: rs28939702
rs28939702
ABCC6
0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		0.700 0