rs63751111, ABCC6

N. diseases: 7
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 1.000 0.160 16 16154873 missense variant C/G;T snv 8.1E-06 0.700 1.000 1 2019 2019
Abnormally lax or hyperextensible skin
CUI: C4024736
Disease: Abnormally lax or hyperextensible skin
53 1.000 0.160 16 16154873 missense variant C/G;T snv 8.1E-06 0.700 0
Angina Pectoris
CUI: C0002962
Disease: Angina Pectoris
65 1.000 0.160 16 16154873 missense variant C/G;T snv 8.1E-06 0.700 0
Cutaneous plaque
CUI: C0241148
Disease: Cutaneous plaque
107 1.000 0.160 16 16154873 missense variant C/G;T snv 8.1E-06 0.700 0
Electrocardiogram abnormal
CUI: C0522055
Disease: Electrocardiogram abnormal
54 1.000 0.160 16 16154873 missense variant C/G;T snv 8.1E-06 0.700 0
Papule
CUI: C0332563
Disease: Papule
131 1.000 0.160 16 16154873 missense variant C/G;T snv 8.1E-06 0.700 0
Retinal Hemorrhage
CUI: C0035317
Disease: Retinal Hemorrhage
86 1.000 0.160 16 16154873 missense variant C/G;T snv 8.1E-06 0.700 0