rs72653786, ABCC6

N. diseases: 9
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.
Abnormally lax or hyperextensible skin
CUI: C4024736
Disease: Abnormally lax or hyperextensible skin
53 0.882 0.280 16 16178961 missense variant A/G;T snv 0.700 0
Angioid Streaks
CUI: C0002982
Disease: Angioid Streaks
90 0.882 0.280 16 16178961 missense variant A/G;T snv 0.700 0
Cutaneous plaque
CUI: C0241148
Disease: Cutaneous plaque
107 0.882 0.280 16 16178961 missense variant A/G;T snv 0.700 0
Nephrolithiasis
CUI: C0392525
Disease: Nephrolithiasis
99 0.882 0.280 16 16178961 missense variant A/G;T snv 0.700 0
Papule
CUI: C0332563
Disease: Papule
131 0.882 0.280 16 16178961 missense variant A/G;T snv 0.700 0
Peau d'orange retinal changes
CUI: C1867453
Disease: Peau d'orange retinal changes
16 0.882 0.280 16 16178961 missense variant A/G;T snv 0.700 0
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.882 0.280 16 16178961 missense variant A/G;T snv 0.700 0
Pseudoxanthoma Elasticum
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
323 0.882 0.280 16 16178961 missense variant A/G;T snv 0.700 0
Retinal Hemorrhage
CUI: C0035317
Disease: Retinal Hemorrhage
86 0.882 0.280 16 16178961 missense variant A/G;T snv 0.700 0