rs72664233, ABCC6

N. diseases: 10
Source: CLINVAR ×
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.
Abnormally lax or hyperextensible skin
CUI: C4024736
Disease: Abnormally lax or hyperextensible skin
53 0.882 0.200 16 16157770 frameshift variant A/- del 8.4E-05 4.9E-05 0.700 0
Angina Pectoris
CUI: C0002962
Disease: Angina Pectoris
51 0.882 0.200 16 16157770 frameshift variant A/- del 8.4E-05 4.9E-05 0.700 0
Angioid Streaks
CUI: C0002982
Disease: Angioid Streaks
88 0.882 0.200 16 16157770 frameshift variant A/- del 8.4E-05 4.9E-05 0.700 0
Cutaneous plaque
CUI: C0241148
Disease: Cutaneous plaque
107 0.882 0.200 16 16157770 frameshift variant A/- del 8.4E-05 4.9E-05 0.700 0
Electrocardiogram abnormal
CUI: C0522055
Disease: Electrocardiogram abnormal
54 0.882 0.200 16 16157770 frameshift variant A/- del 8.4E-05 4.9E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
505 0.882 0.200 16 16157770 frameshift variant A/- del 8.4E-05 4.9E-05 0.700 0
Intermittent Claudication
CUI: C0021775
Disease: Intermittent Claudication
65 0.882 0.200 16 16157770 frameshift variant A/- del 8.4E-05 4.9E-05 0.700 0
Papule
CUI: C0332563
Disease: Papule
131 0.882 0.200 16 16157770 frameshift variant A/- del 8.4E-05 4.9E-05 0.700 0
Pseudoxanthoma Elasticum
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
312 0.882 0.200 16 16157770 frameshift variant A/- del 8.4E-05 4.9E-05 0.700 0
Retinal Hemorrhage
CUI: C0035317
Disease: Retinal Hemorrhage
86 0.882 0.200 16 16157770 frameshift variant A/- del 8.4E-05 4.9E-05 0.700 0