rs878853243, TSPAN12

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.
Exudative vitreoretinopathy 1
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
28 0.851 0.160 7 120806619 missense variant C/A snv 0.700 0
Exudative Vitreoretinopathy 5
CUI: C2750079
Disease: Exudative Vitreoretinopathy 5
12 0.851 0.160 7 120806619 missense variant C/A snv 0.700 0
Norrie disease
CUI: C0266526
Disease: Norrie disease
28 0.851 0.160 7 120806619 missense variant C/A snv 0.700 0
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
CUI: C1969783
Disease: Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
4 0.851 0.160 7 120806619 missense variant C/A snv 0.700 0