rs769405586, ABCC6

N. diseases: 6
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.
Angioid Streaks
CUI: C0002982
Disease: Angioid Streaks
90 0.925 0.200 16 16178934 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.700 0
Cutaneous plaque
CUI: C0241148
Disease: Cutaneous plaque
107 0.925 0.200 16 16178934 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.700 0
Papule
CUI: C0332563
Disease: Papule
131 0.925 0.200 16 16178934 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.700 0
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.925 0.200 16 16178934 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.700 0
Pseudoxanthoma Elasticum
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
323 0.925 0.200 16 16178934 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.700 0
Retinal Hemorrhage
CUI: C0035317
Disease: Retinal Hemorrhage
86 0.925 0.200 16 16178934 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.700 0