rs72653763, ABCC6

N. diseases: 4
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 16202001 missense variant C/A;G snv 8.0E-06 0.800 1.000 15 2000 2015
Abnormally lax or hyperextensible skin
CUI: C4024736
Disease: Abnormally lax or hyperextensible skin
53 1.000 0.160 16 16202001 missense variant C/A;G snv 8.0E-06 0.700 0
Intermittent Claudication
CUI: C0021775
Disease: Intermittent Claudication
69 1.000 0.160 16 16202001 missense variant C/A;G snv 8.0E-06 0.700 0
Retinal Hemorrhage
CUI: C0035317
Disease: Retinal Hemorrhage
86 1.000 0.160 16 16202001 missense variant C/A;G snv 8.0E-06 0.700 0