rs28939701, 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 16163087 missense variant G/A snv 4.4E-05 3.5E-05 0.800 1.000 15 2000 2015
Abnormally lax or hyperextensible skin
CUI: C4024736
Disease: Abnormally lax or hyperextensible skin
53 0.827 0.240 16 16163087 missense variant G/A snv 4.4E-05 3.5E-05 0.700 0
Angioid Streaks
CUI: C0002982
Disease: Angioid Streaks
90 0.827 0.240 16 16163087 missense variant G/A snv 4.4E-05 3.5E-05 0.700 0
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
CUI: C3276161
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
16 0.827 0.240 16 16163087 missense variant G/A snv 4.4E-05 3.5E-05 0.700 0
Cutaneous plaque
CUI: C0241148
Disease: Cutaneous plaque
107 0.827 0.240 16 16163087 missense variant G/A snv 4.4E-05 3.5E-05 0.700 0
Gastrointestinal Hemorrhage
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
24 0.827 0.240 16 16163087 missense variant G/A snv 4.4E-05 3.5E-05 0.700 0
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.827 0.240 16 16163087 missense variant G/A snv 4.4E-05 3.5E-05 0.700 0
Intermittent Claudication
CUI: C0021775
Disease: Intermittent Claudication
69 0.827 0.240 16 16163087 missense variant G/A snv 4.4E-05 3.5E-05 0.700 0
Papule
CUI: C0332563
Disease: Papule
131 0.827 0.240 16 16163087 missense variant G/A snv 4.4E-05 3.5E-05 0.700 0
Peau d'orange retinal changes
CUI: C1867453
Disease: Peau d'orange retinal changes
16 0.827 0.240 16 16163087 missense variant G/A snv 4.4E-05 3.5E-05 0.700 0
Pseudoxanthoma Elasticum, Incomplete
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
6 0.827 0.240 16 16163087 missense variant G/A snv 4.4E-05 3.5E-05 0.700 0
Retinal Hemorrhage
CUI: C0035317
Disease: Retinal Hemorrhage
86 0.827 0.240 16 16163087 missense variant G/A snv 4.4E-05 3.5E-05 0.700 0